Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge... von Riggs, Erin Rooney, Andersen, Erica F., Cherry, Athena M., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese

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Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification von Thaxton, Courtney, Good, Molly E., DiStefano, Marina T., Luo, Xi, Andersen, Erica F., Thorland, Erik, Berg, Jonathan, Martin, Christa Lese, Rehm, Heidi L., Riggs, Erin R.

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Expansion of the Genotypic and Phenotypic Spectrum of ASH1L -Related Syndromic Neurodevelopmental Disorder von Cordova, Ineke, Blesson, Alyssa, Savatt, Juliann M, Sveden, Abigail, Mahida, Sonal, Hazlett, Heather, Rooney Riggs, Erin, Chopra, Maya

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Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group von Schmidt, Ryan J., Steeves, Marcie, Bayrak-Toydemir, Pinar, Benson, Katherine A., Coe, Bradley P., Conlin, Laura K., Ganapathi, Mythily, Garcia, John, Gollob, Michael H., Jobanputra, Vaidehi, Luo, Minjie, Ma, Deqiong, Maston, Glenn, McGoldrick, Kelly, Palculict, T. Blake, Pesaran, Tina, Pollin, Toni I., Qian, Emily, Rehm, Heidi L., Riggs, Erin R., Schilit, Samantha L.P., Sergouniotis, Panagiotis I., Tvrdik, Tatiana, Watkins, Nicholas, Zec, Lauren, Zhang, Wenying, Lebo, Matthew S., Byrne, Alicia, Spurdle, Amanda, Palculict, Blake, Coe, Bradley, Deqiong, Ma, Lyon, Elaine, Groopman, Emily, Qian, Emily, Puffenberger, Erik, Riggs, Erin, Couch, Fergus, Maston, Glenn, Dziadzio, Hannah, Harraway, James, Mester, Jessica, Garcia, John, Lerner-Ellis, Jordan, Benson, Katherine, Avello, Kayleigh, McGoldrick, Kelly, Conlin, Laura, Zec, Lauren, Steeves, Marcie, Richardson, Marcy, Lebo, Matt, Kelly, Melissa, Gollob, Michael, Luo, Minjie, Ganapathi, Mythily, Watkins, Nicholas, Niu, Nifang, Sergouniotis, Panagiotis, Bayrak-Toydemir, Pinar, Schmidt, Ryan, Schilit, Samantha, Richards, Sarah, Pesaran, Tina, Pollin, Toni, Jobanputra, Vaidehi, Zhang, Wenying, Chen, Wuyan, Fan, Yuxin

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Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics) von Nisselle, Amy, Janinski, Monika, Martyn, Melissa, McClaren, Belinda, Kaunein, Nadia, Maguire, Jane, Riggs, Erin Rooney, Barlow-Stewart, Kristine, Belcher, Andrea, Bernat, John A., Best, Stephanie, Bishop, Michelle, Carroll, June C., Cornel, Martina, Dissanayake, Vajira H.W., Dodds, Agnes, Dunlop, Kate, Garg, Gunjan, Gear, Russell, Graves, Debra, Knight, Ken, Korf, Bruce, Kumar, Dhavendra, Laurino, Mercy, Ma, Alan, Mallett, Andrew, McCarthy, Maria, McEwen, Alison, Mulder, Nicola, Patel, Chirag, Quinlan, Catherine, Reed, Kate, Sinnerbrink, Ingrid, Slavotinek, Anne, Suppiah, Vijayaprakash, Terrill, Bronwyn, Tobias, Edward S., Tonkin, Emma, Trumble, Steve, Wessels, Tina-Marie, Metcalfe, Sylvia, Jordan, Helen, Gaff, Clara

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Propinquity through dwelling: Living in evacuee properties after the Partition of India and Pakistan von Jatt, Zahida Rehman, Riggs, Erin P

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Development of a consent resource for genomic data sharing in the clinical setting von Riggs, Erin Rooney, Azzariti, Danielle R., Niehaus, Annie, Goehringer, Scott R., Ramos, Erin M., Rodriguez, Laura Lyman, Knoppers, Bartha, Rehm, Heidi L., Martin, Christa Lese

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Using ClinVar as a Resource to Support Variant Interpretation von Harrison, Steven M., Riggs, Erin R., Maglott, Donna R., Lee, Jennifer M., Azzariti, Danielle R., Niehaus, Annie, Ramos, Erin M., Martin, Christa L., Landrum, Melissa J., Rehm, Heidi L.

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Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future von Milko, Laura V., Funke, Birgit H., Hershberger, Ray E., Azzariti, Danielle R., Lee, Kristy, Riggs, Erin R., Rivera-Munoz, Edgar A., Weaver, Meredith A., Niehaus, Annie, Currey, Erin L., Craigen, William J., Mao, Rong, Offit, Kenneth, Steiner, Robert D., Martin, Christa L., Rehm, Heidi L., Watson, Michael S., Ramos, Erin M., Plon, Sharon E., Berg, Jonathan S.

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Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource von Strande, Natasha T., Riggs, Erin Rooney, Buchanan, Adam H., Ceyhan-Birsoy, Ozge, DiStefano, Marina, Dwight, Selina S., Goldstein, Jenny, Ghosh, Rajarshi, Seifert, Bryce A., Sneddon, Tam P., Wright, Matt W., Milko, Laura V., Cherry, J. Michael, Giovanni, Monica A., Murray, Michael F., O’Daniel, Julianne M., Ramos, Erin M., Santani, Avni B., Scott, Alan F., Plon, Sharon E., Rehm, Heidi L., Martin, Christa L., Berg, Jonathan S.

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Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG) von Raca, Gordana, Astbury, Caroline, Behlmann, Andrea, De Castro, Mauricio J., Hickey, Scott E., Karaca, Ender, Lowther, Chelsea, Riggs, Erin Rooney, Seifert, Bryce A., Thorland, Erik C., Deignan, Joshua L.

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Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry von Savatt, Juliann M., Azzariti, Danielle R., Ledbetter, David H., Palen, Emily, Rehm, Heidi L., Riggs, Erin Rooney, Martin, Christa Lese

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P137: Engaging participants in data sharing enables exploration of dual diagnoses von Cooney, Caitlin, Savatt, Juliann, Riggs, Erin, Martin, Christa

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Response to Spurdle et al von Riggs, Erin R, Andersen, Erica F, Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I, South, Sarah T, Thorland, Erik C, Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa L

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Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Gen... von Riggs, Erin Rooney, Andersen, Erica F., Cherry, Athena M., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese

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Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties von Wain, Karen E., Azzariti, Danielle R., Goldstein, Jennifer L., Johnson, Amy Knight, Krautscheid, Patti, Lepore, Brianna, O’Daniel, Julianne M., Ritter, Deborah, Savatt, Juliann M., Riggs, Erin Rooney, Martin, Christa Lese

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Response to Maya et al von Riggs, Erin Rooney, Andersen, Erica F., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese

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Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar von Riggs, Erin R., Nelson, Tristan, Merz, Andrew, Ackley, Todd, Bunke, Brian, Collins, Christin D., Collinson, Morag N., Fan, Yao‐Shan, Goodenberger, McKinsey L., Golden, Denae M., Haglund‐Hazy, Linda, Krgovic, Danijela, Lamb, Allen N., Lewis, Zoe, Li, Guang, Liu, Yajuan, Meck, Jeanne, Neufeld‐Kaiser, Whitney, Runke, Cassandra K., Sanmann, Jennifer N., Stavropoulos, Dimitri J., Strong, Emma, Su, Meng, Tayeh, Marwan K., Kokalj Vokac, Nadja, Thorland, Erik C., Andersen, Erica, Martin, Christa L.

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P877: Understanding the advantages of translating educational materials for the Clinical Genome Resource von Cordova, Ineke, Bly, Zo, Berg, Jonathan, Bulkley, Joanna, DiStefano, Marina, Klein, Teri, Morales, Joannella, Ritter, Deborah, Riggs, Erin

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The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria von Helbig, Ingo, Riggs, Erin Rooney, Barry, Carrie‐Anne, Klein, Karl Martin, Dyment, David, Thaxton, Courtney, Sadikovic, Bekim, Sands, Tristan T., Wagnon, Jacy L., Liaquat, Khalida, Cilio, Maria Roberta, Mirzaa, Ghayda, Park, Kristen, Axeen, Erika, Butler, Elizabeth, Bardakjian, Tanya M., Striano, Pasquale, Poduri, Annapurna, Siegert, Rebecca K., Grant, Andrew R., Helbig, Katherine L., Mefford, Heather C.

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