Submissions for variant NM_002878.4(RAD51D):c.12C>G (p.Leu4=)

gnomAD frequency: 0.00001  dbSNP: rs786203193

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166398	SCV000217190	likely benign	Hereditary cancer-predisposing syndrome	2014-10-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087542	SCV000561555	likely benign	Breast-ovarian cancer, familial, susceptibility to, 4	2024-11-06	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000506280	SCV000602151	likely benign	not specified	2017-01-17	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000166398	SCV000691304	likely benign	Hereditary cancer-predisposing syndrome	2016-04-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000679536	SCV000716826	likely benign	not provided	2021-05-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21111057)
PreventionGenetics, part of Exact Sciences	RCV000679536	SCV000806574	likely benign	not provided	2017-12-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000506280	SCV000920131	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing