ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)

dbSNP: rs797045900
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194843 SCV000248602 likely pathogenic Spinocerebellar ataxia type 14 2015-03-30 criteria provided, single submitter clinical testing

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