Submissions for variant NM_032043.3(BRIP1):c.636C>A (p.Gly212=)

dbSNP: rs1057520255

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000429977	SCV000512414	likely benign	not specified	2016-03-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000429977	SCV000600928	likely benign	not specified	2024-03-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001025183	SCV001187322	likely benign	Hereditary cancer-predisposing syndrome	2018-03-23	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.
Color Diagnostics, LLC DBA Color Health	RCV001025183	SCV001355693	likely benign	Hereditary cancer-predisposing syndrome	2018-08-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001406833	SCV001608791	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2025-01-23	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001025183	SCV002533735	likely benign	Hereditary cancer-predisposing syndrome	2021-05-05	criteria provided, single submitter	curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000429977	SCV004029742	likely benign	not specified	2023-07-20	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004791448	SCV005406484	benign	Familial cancer of breast	2024-08-22	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.