ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.632-5T>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 RCV003051526 SCV003338631 likely benign Hereditary breast ovarian cancer syndrome 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004948927 SCV005550092 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-30 criteria provided, single submitter clinical testing The c.632-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 7 in the BRCA2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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