ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5381T>G (p.Val1794Gly)

dbSNP: rs2072528202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284429 SCV001470222 uncertain significance not provided 2020-07-12 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV003158644 SCV003847205 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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