ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8948A>T (p.Asp2983Val)

dbSNP: rs2137620740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247036 SCV002517999 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154062 SCV003843806 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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