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P220: The ClinGen Variant Curation Interface (VCI) to support direct submission and tracking of submissions to ClinVar by Christine Preston, Bryan Wulf, Liam Mulhall, Gloria Cheung, Mark Mandell, Rachel Shapira, Marina DiStefano, Gabriella Sanchez, Pamela Robertson, Justyne Ross, Hannah Dziadzio, Neethu Shah, Larry Babb, Clarissa Klein, Deborah Ritter, Aleksandar Milosavljevic, Matt Wright, Sharon Plon, Teri Klein
Published 2025-01-01Get full text
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P630: ClinGen curation of ClinVar: Improving a critical community resource* by Heidi Rehm, Julie Ratliff, Pamela Robertson, Danielle Azzariti, Larry Babb, Anabella Popiel, Audrey O’Neill, Vanessa Gitau, Ryan Webb, Eric Coleman, Kyle Ferriter, Terry O’Neill, Kuljeet Kaur, Shanmuga Chitipiralla, Chao Chen, Baoshan Gu, Jinpeng Yang, Steven Harrison, Erin Riggs, Marina DiStefano, Melissa Landrum
Published 2025-01-01Get full text
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Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels by Emma H. Wilcox, Ryan F. Webb, Kezang C. Tshering, Madeline Y. Hughes, Hélène Cavé, Marina T. DiStefano, Hannah Dziadzio, Kate Garber, Bruce D. Gelb, Karen W. Gripp, Shoji Ichikawa, Jennifer A. Lee, Hannah McCurry, Marco Tartaglia, Bradley Williams, Martin Zenker, Lisa M. Vincent, Heather Mason-Suares, Bradley Williams, Bruce Gelb, Hannah Dziadzio, Heather Mason-Suares, Hélène Cavé, Jennifer Lee, Karen Gripp, Kat Lafferty, Kezang Tshering, Lisa Vincent, Luis Enrique Gomez, Marco Tartaglia, Marina DiStefano, Martin Zenker, Reza Ahmadian, Ryan Webb, Shoji Ichikawa
Published 2025-01-01Get full text
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