ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5836T>A (p.Ser1946Thr)

dbSNP: rs80358811
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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 RCV001283932 SCV001469442 uncertain significance not provided 2019-12-27 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV003158638 SCV003850715 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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