ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2257+17T>C

gnomAD frequency: 0.00001  dbSNP: rs730881639
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160344 SCV000210850 benign not specified 2014-10-07 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 RCV000581998 SCV000689325 likely benign Hereditary cancer-predisposing syndrome 2017-07-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679779 SCV000807130 likely benign not provided 2017-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002053919 SCV002342210 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-01-31 criteria provided, single submitter clinical testing

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