ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5260G>A (p.Asp1754Asn)

dbSNP: rs771571938
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589225 SCV000694849 uncertain significance not provided 2016-02-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000773243 SCV000906857 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-01 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000773243 SCV003847121 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).
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492113 SCV004240326 uncertain significance Breast and/or ovarian cancer 2023-05-01 criteria provided, single submitter clinical testing

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