Submissions for variant NM_002878.4(RAD51D):c.494G>A (p.Arg165Gln)

gnomAD frequency: 0.11973  dbSNP: rs4796033

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000131069	SCV000185999	benign	Hereditary cancer-predisposing syndrome	2019-01-18	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health	RCV000131069	SCV000292088	benign	Hereditary cancer-predisposing syndrome	2014-11-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000245575	SCV000309255	benign	not specified		criteria provided, single submitter	clinical testing
Counsyl	RCV000409134	SCV000488799	benign	Breast-ovarian cancer, familial, susceptibility to, 4	2016-06-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000409134	SCV000884439	benign	Breast-ovarian cancer, familial, susceptibility to, 4	2024-11-06	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000409134	SCV001440195	benign	Breast-ovarian cancer, familial, susceptibility to, 4	2019-01-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000409134	SCV001717669	benign	Breast-ovarian cancer, familial, susceptibility to, 4	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001705932	SCV001841070	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28202063)
Myriad Genetics, Inc.	RCV000409134	SCV004044159	benign	Breast-ovarian cancer, familial, susceptibility to, 4	2023-05-10	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Breakthrough Genomics, Breakthrough Genomics	RCV001705932	SCV005253873	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000245575	SCV001906259	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000245575	SCV001951768	benign	not specified		no assertion criteria provided	clinical testing