ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1474A>G (p.Ile492Val)

dbSNP: rs1597875858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817652 SCV000958229 benign Hereditary breast ovarian cancer syndrome 2023-07-17 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV003158224 SCV003851270 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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