Submissions for variant NM_032043.3(BRIP1):c.1917T>C (p.His639=)

dbSNP: rs763534423

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001013693	SCV001174312	likely benign	Hereditary cancer-predisposing syndrome	2019-03-27	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.
Sema4, Sema4	RCV001013693	SCV002531379	uncertain significance	Hereditary cancer-predisposing syndrome	2021-08-11	criteria provided, single submitter	curation
Labcorp Genetics (formerly Invitae), Labcorp	RCV002549394	SCV003496799	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2022-02-23	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004789330	SCV005402999	benign	Familial cancer of breast	2024-08-30	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.