ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1117C>A (p.Gln373Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290108 SCV002581824 likely benign Familial cancer of breast 2024-02-09 criteria provided, single submitter clinical testing ACMG codes applied following ENIGMA VCEP rules: BP1_STR, PM2_SUP
University of Washington Department of Laboratory Medicine, University of Washington RCV003157123 SCV003849845 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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