Berlin skyline panorama with TV tower and Spree river at sunset,
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European Society of Human Genetics

ESHG 2024

June 1 – 4
Berlin, Germany
Directions RSVP
Sunday
June 2
  • Oral Presentations 11:06 AM – 11:09 AM
Monday
June 3
  • Poster Session 3:45 PM – 4:45 PM (1 Poster)
Berlin skyline panorama with TV tower and Spree river at sunset,
Monday, June 3
3:45 PM – 4:45 PM
1 Poster
Session
PP01.097.D
Systematic application of ClinGen InSiGHT APC-specific ACMG/AMP variant classification criteria alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases
Marcy E. Richardson, Tina Pesaran, MA, MS, CGC, Isabel Spier, Xiaoyu Yin, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, Thomas v O Hansen, Marta Pineda, Deborah Ritter, Johan de Dunnen, Emadeldin Hassanin, Lyman Lin, Ester Borras, Karl Krahn, Margareta Nordling, Alexandra Martins, Khalid Mahmood, Emily Nadeau, Victoria Beshay, Carli Tops, Maurizio Genuardi, Ian M Frayling, Gabriel Capellá, Andrew Latchford, Sean V. Tavtigian, Carlo Maj, Sharon E. Plon, Marc S Greenblatt, Finlay A Macrae, Stefan Aretz
Sunday, June 2
11:06 AM – 11:09 AM
1 Presentation
Session
C17.14
Systematic application of ClinGen InSiGHT APC-specific ACMG/AMP variant classification criteria alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases
Isabel Spier, Xiaoyu Yin, Marcy E. Richardson, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, Thomas v O Hansen, Marta Pineda, Deborah Ritter, Johan de Dunnen, Emadeldin Hassanin, Lyman Lin, Ester Borras, Karl Krahn, Margareta Nordling, Alexandra Martins, Khalid Mahmood, Emily Nadeau, Victoria Beshay, Carli Tops, Maurizio Genuardi, Tina Pesaran, Ian M Frayling, Gabriel Capellu00e1, Andrew Latchford, Sean V. Tavtigian, Carlo Maj, Sharon E. Plon, Marc S Greenblatt, Finlay A Macrae, Stefan Aretz, Andreas Laner