ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3300C>A (p.Asn1100Lys)

dbSNP: rs1555283155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000580709 SCV000683543 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-29 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000580709 SCV003851839 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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