Submissions for variant NM_032043.3(BRIP1):c.36G>C (p.Gly12=)

dbSNP: rs45566938

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164127	SCV000214742	likely benign	Hereditary cancer-predisposing syndrome	2014-10-08	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.
GeneDx	RCV000418068	SCV000527515	likely benign	not specified	2016-05-06	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000925102	SCV001070631	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2023-10-12	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000164127	SCV001355788	likely benign	Hereditary cancer-predisposing syndrome	2019-02-22	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004786453	SCV005404321	benign	Familial cancer of breast	2024-08-08	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.