ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2198T>G (p.Val733Gly)

dbSNP: rs1135401897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150242 SCV003838816 uncertain significance Breast and/or ovarian cancer 2021-08-17 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV003157598 SCV003846568 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).
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496459 SCV000587624 uncertain significance not specified 2014-01-31 no assertion criteria provided research

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