ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5890A>T (p.Lys1964Ter)

dbSNP: rs1555284445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243566 SCV002512274 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2021-09-26 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderate
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004799647 SCV005420921 pathogenic Familial cancer of breast 2024-12-09 criteria provided, single submitter clinical testing

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