CCG 2024 - Ambry Genetics

Thursday

May 9

Poster Session 5:00 PM – 6:00 PM (2 Posters)

Friday

May 10

Oral Presentations 10:00 AM – 10:30 AM

Downtown city skyline and Inner Harbor, Baltimore, Maryland, USA

Thursday, May 9

5:00 PM – 6:00 PM

2 Posters

Session

P21

ClinGen HBOP VCEP curation of ATM variants associated with Ataxia-Telangiectasia

Abstract

Poster

Akila S. Shanmugasundaram, Colin Young, PhD, Fergus Couch, Huei San Leong, Lauren Zec, Marcy E. Richardson, Megan Holdren, MS,CGC, Shofia Souceradjou, Susan Hiraki, Terra Brannan, Victor Martinez, Yu Mei

Session

P27

Pushing the Limit(ed)s: Modifications to a Gene-Validity Framework for Common Diseases and the Impact on Clinical Utility of Genetic Testing

Abstract

Poster

Amybeth Weaver, Bess Wayburn, Carolyn Horton, Jennifer Herrera-Mullar, Jennifer Huang, Meghan C. Towne

Friday, May 10

10:00 AM – 10:30 AM

1 Presentation

Session

N/A

Current Work of the APC Subcommittee of the InSiGHT- ClinGen Hereditary CRC/Polyposis Variant Curation Expert Panel: Interpretation of Selected APC Variants Based on the APC-Specific ACMG/AMP Variant Classification Criteria

Abstract

Marcy E. Richardson