ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)

dbSNP: rs386134166
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000034993 SCV005627524 likely pathogenic Spinocerebellar ataxia type 14 2024-12-12 criteria provided, single submitter clinical testing Criteria applied: PS4_MOD,PM2,PM5,PM1_SUP,PP2,PP3
GeneReviews RCV000034993 SCV000058629 not provided Spinocerebellar ataxia type 14 no assertion provided literature only

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