Submissions for variant NM_007294.4(BRCA1):c.1398G>A (p.Arg466=)

dbSNP: rs1060504571

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001400106	SCV001601907	likely benign	Hereditary breast ovarian cancer syndrome	2024-04-22	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001778970	SCV002015056	likely benign	not specified	2021-10-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002393203	SCV002700717	likely benign	Hereditary cancer-predisposing syndrome	2015-10-27	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.
All of Us Research Program, National Institutes of Health	RCV004002142	SCV004836960	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2023-10-02	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005355897	SCV005914147	likely benign	Fanconi anemia, complementation group S	2022-03-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV002393203	SCV006063317	likely benign	Hereditary cancer-predisposing syndrome	2023-08-23	criteria provided, single submitter	clinical testing