Skip to main content

Holiday schedule

Our Patient Service Centers will be closed on Thursday, November 28, 2024 in observance of Thanksgiving. Have a healthy, happy holiday.

Hide
Quest Diagnostics

Recommendations for Risk Allele Evidence Curation, Classification, and Reporting From the ClinGen Low Penetrance/Risk Allele Working Group

Recommendations for Risk Allele Evidence Curation, Classification, and Reporting From the ClinGen Low Penetrance/Risk Allele Working Group

Authors: Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS

Citation: Genet Med. 2023 Dec 3:101036. doi: 10.1016/j.gim.2023.101036. Online ahead of print.

Specialties: Genetics

Related content

Conference Presentation
A Draft Framework for Classification and Reporting of Risk Alleles from the ClinGen Low-Penetrance/Risk Allele Working Group
Publication
Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods
Conference Presentation
Curation Of Genes Associated With Primary Antibody Deficiencies Using A ClinGen Framework
Conference Presentation
A Web-Based Educational Program to Support the Updated ACMG/ClinGen Technical Standards for Constitutional Copy Number Variant Classification

Our company

Quest® is the brand name used for services offered by Quest Diagnostics Incorporated and its affiliated companies. Quest Diagnostics Incorporated and certain affiliates are CLIA certified laboratories that provide HIPAA covered services.  Other affiliates operated under the Quest® brand, such as Quest Consumer Inc., do not provide HIPAA covered services. 

 

Quest®, Quest Diagnostics®, any associated logos, and all associated Quest Diagnostics registered or unregistered trademarks are the property of Quest Diagnostics. All third-party marks—® and ™—are the property of their respective owners. © 2024 Quest Diagnostics Incorporated. All rights reserved. Image content features models and is intended for illustrative purposes only.