ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2257+19A>C

gnomAD frequency: 0.00079  dbSNP: rs77851913
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124022 SCV000167431 benign not specified 2013-12-30 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.
Counsyl RCV000411358 SCV000489837 benign Fanconi anemia complementation group J 2016-06-08 criteria provided, single submitter clinical testing
Counsyl RCV000409304 SCV000489838 benign Ovarian neoplasm 2016-06-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580414 SCV000684198 benign Hereditary cancer-predisposing syndrome 2015-04-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000124022 SCV000807131 benign not specified 2017-02-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811994 SCV001474437 benign not provided 2019-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055433 SCV002439560 benign Familial cancer of breast; Fanconi anemia complementation group J 2025-02-04 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000124022 SCV002551174 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149852 SCV003838375 benign Breast and/or ovarian cancer 2022-05-03 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000124022 SCV001905680 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000124022 SCV001957517 benign not specified no assertion criteria provided clinical testing

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