ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)

dbSNP: rs1555806333
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501395 SCV000596586 likely pathogenic Spinocerebellar ataxia type 14 2017-03-28 criteria provided, single submitter clinical testing
GeneReviews RCV000501395 SCV001339269 not provided Spinocerebellar ataxia type 14 no assertion provided literature only

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