Submissions for variant NM_002878.4(RAD51D):c.198G>T (p.Val66=)

gnomAD frequency: 0.00003  dbSNP: rs200810304

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163761	SCV000214339	likely benign	Hereditary cancer-predisposing syndrome	2015-01-12	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.
GeneDx	RCV001721054	SCV000514355	likely benign	not provided	2018-08-13	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163761	SCV000537457	likely benign	Hereditary cancer-predisposing syndrome	2015-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000411752	SCV000561575	likely benign	Breast-ovarian cancer, familial, susceptibility to, 4	2025-01-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000425576	SCV001338661	likely benign	not specified	2020-04-23	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163761	SCV002534781	likely benign	Hereditary cancer-predisposing syndrome	2021-08-11	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV000411752	SCV004017718	benign	Breast-ovarian cancer, familial, susceptibility to, 4	2023-04-06	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
CeGaT Center for Human Genetics Tuebingen	RCV001721054	SCV006098974	likely benign	not provided	2025-05-01	criteria provided, single submitter	clinical testing	RAD51D: BP4, BP7
Counsyl	RCV000411752	SCV000488844	likely benign	Breast-ovarian cancer, familial, susceptibility to, 4	2016-07-05	no assertion criteria provided	clinical testing	This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact [e-mail].