ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2258-20G>A

dbSNP: rs1555590610
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604318 SCV000731030 likely benign not specified 2017-06-27 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.
Color Diagnostics, LLC DBA Color Health RCV001186316 SCV001352699 likely benign Hereditary cancer-predisposing syndrome 2018-11-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002528757 SCV003016914 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2022-01-02 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004788031 SCV005403993 likely benign Familial cancer of breast 2024-09-04 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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