CCG 2024

Curating the Clinical Genome 2024


Research

Contact an Author

Scientific Posters

Poster # 21

Thursday, May 9, 2024 5:00 - 6:00pm Abstract Poster Video

Marcy E. Richardson, Terra Brannan, Susan Hiraki, Megan Holdren, Huei San Leong, Victor Martinez, Yu Mei, Akila S. Shanmugasundaram, Shofia Souceradjou, Colin Young, Lauren Zec, Fergus J. Couch. ClinGen HBOP VCEP curation of ATM variants associated with Ataxia-Telangiectasia.

Poster # 27

Thursday, May 9, 2024 5:00 - 6:00pm Abstract Poster Video

Jennifer Herrera-Mullar, Meghan C. Towne, Amybeth Weaver, Jennifer Huang, Carolyn Horton, Bess Wayburn. Pushing the Limit(ed)s: Modifications to a Gene-Validity Framework for Common Diseases and the Impact on Clinical Utility of Genetic Testing.

Oral Presentations

Session # N/A

Friday, May 10, 2024 10:00 - 10:30am Abstract

Marcy E. Richardson. 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

Get in Touch With Us

Contact a Sales Rep

Our Blog

Read our blog on why Ambry is using evidence-based quality testing.

Read More

Search Results

Start your search...