ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.507+20A>C

gnomAD frequency: 0.00002  dbSNP: rs369270945
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437062 SCV000516562 likely benign not specified 2016-11-14 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 RCV000580641 SCV000684284 likely benign Hereditary cancer-predisposing syndrome 2017-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061622 SCV002341681 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-11-03 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000437062 SCV002551211 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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