Submissions for variant NM_032043.3(BRIP1):c.312T>G (p.Thr104=)

gnomAD frequency: 0.00003  dbSNP: rs769190318

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163083	SCV000213586	likely benign	Hereditary cancer-predisposing syndrome	2015-02-05	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.
Counsyl	RCV000409311	SCV000490067	likely benign	Fanconi anemia complementation group J	2016-10-26	criteria provided, single submitter	clinical testing
Counsyl	RCV000410437	SCV000490068	likely benign	Ovarian neoplasm	2016-10-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001721033	SCV000522955	likely benign	not provided	2020-02-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163083	SCV000537470	likely benign	Hereditary cancer-predisposing syndrome	2015-11-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000458991	SCV000558549	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2025-01-19	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001721033	SCV000600913	likely benign	not provided	2021-05-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000420822	SCV000699714	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000420822	SCV002760991	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003315985	SCV004019372	benign	Familial cancer of breast	2023-02-28	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.