ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2061G>C (p.Val687=)

gnomAD frequency: 0.00153  dbSNP: rs112414873
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001084040 SCV000166675 benign Familial cancer of breast; Fanconi anemia complementation group J 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000212316 SCV000210860 benign not specified 2014-06-10 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.
Ambry Genetics RCV000160354 SCV000213727 likely benign Hereditary cancer-predisposing syndrome 2014-09-05 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.
Color Diagnostics, LLC DBA Color Health RCV000160354 SCV000684180 likely benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
Counsyl RCV000662417 SCV000784853 likely benign Fanconi anemia complementation group J; Ovarian neoplasm 2017-01-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000212316 SCV000861676 likely benign not specified 2018-06-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477526 SCV000889205 benign not provided 2022-08-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000212316 SCV002068902 likely benign not specified 2022-01-04 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225393 SCV002505031 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000160354 SCV002531388 benign Hereditary cancer-predisposing syndrome 2021-03-24 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV003315826 SCV004019397 benign Familial cancer of breast 2023-03-01 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003477526 SCV004564502 benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003477526 SCV005211180 likely benign not provided criteria provided, single submitter not provided
True Health Diagnostics RCV000160354 SCV000787964 likely benign Hereditary cancer-predisposing syndrome 2017-10-25 no assertion criteria provided clinical testing

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