ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.507+16T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002593558 SCV002945383 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2022-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004017942 SCV004848943 uncertain significance Hereditary cancer-predisposing syndrome 2015-04-20 criteria provided, single submitter clinical testing The c.507+16T>C intronic alteration consists of a T to C substitution 6 nucleotides after coding exon 4 in the BRIP1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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