Submissions for variant NM_032043.3(BRIP1):c.3285T>C (p.Ser1095=)

dbSNP: rs774105218

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000477481	SCV000558600	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2024-08-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000775406	SCV000909747	likely benign	Hereditary cancer-predisposing syndrome	2018-07-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000775406	SCV001181057	likely benign	Hereditary cancer-predisposing syndrome	2019-01-25	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.	RCV004787761	SCV005406731	benign	Familial cancer of breast	2024-09-10	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.