Submissions for variant NM_032043.3(BRIP1):c.1698C>T (p.Asp566=)

dbSNP: rs1555602561

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000600381	SCV000715885	likely benign	not specified	2017-02-07	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.
Color Diagnostics, LLC DBA Color Health	RCV001181636	SCV001346819	likely benign	Hereditary cancer-predisposing syndrome	2019-12-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001181636	SCV002715449	likely benign	Hereditary cancer-predisposing syndrome	2019-11-18	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.
Myriad Genetics, Inc.	RCV004791622	SCV005406613	benign	Familial cancer of breast	2024-08-29	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.