ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.-39-8T>C

gnomAD frequency: 0.00001  dbSNP: rs1268066075
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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 RCV001492607 SCV001697221 likely benign Hereditary breast ovarian cancer syndrome 2023-10-26 criteria provided, single submitter clinical testing
GeneDx RCV004699402 SCV005201431 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge; Also known as 190-8T>C

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