ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2131A>T (p.Lys711Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Bochum, Ruhr University Bochum RCV003886319 SCV004704551 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2024-01-05 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant:PVS1, PM2_SUP

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