ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.379+8A>C

dbSNP: rs1057520254
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420456 SCV000512410 likely benign not specified 2016-09-30 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.
Color Diagnostics, LLC DBA Color Health RCV000579454 SCV000684271 likely benign Hereditary cancer-predisposing syndrome 2016-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000919025 SCV001064358 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-11-19 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004786686 SCV005405621 likely benign Familial cancer of breast 2024-08-21 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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