ClinVar Miner

Submissions for variant NM_000534.5(PMS1):c.287C>G (p.Ala96Gly)

dbSNP: rs139414606
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153397 SCV003843802 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
ITMI RCV000121815 SCV000086013 not provided not specified 2013-09-19 no assertion provided reference population

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