Submissions for variant NM_032043.3(BRIP1):c.1023C>T (p.Val341=)

gnomAD frequency: 0.00001  dbSNP: rs957014406

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000924864	SCV001070390	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2024-11-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001017044	SCV001178067	likely benign	Hereditary cancer-predisposing syndrome	2017-02-01	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	RCV001017044	SCV001357928	likely benign	Hereditary cancer-predisposing syndrome	2018-10-17	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001017044	SCV002531324	likely benign	Hereditary cancer-predisposing syndrome	2022-02-09	criteria provided, single submitter	curation
GeneDx	RCV004721678	SCV005327950	likely benign	not provided	2020-01-29	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Myriad Genetics, Inc.	RCV004789253	SCV005405987	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.