ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7008C>A (p.Arg2336=)

dbSNP: rs1555285975
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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 RCV000637897 SCV000759377 likely benign Hereditary breast ovarian cancer syndrome 2024-05-19 criteria provided, single submitter clinical testing
GeneDx RCV004723007 SCV005333096 uncertain significance not provided 2023-04-11 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 7236C>A

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