ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)

dbSNP: rs121918514
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000014152 SCV000034400 pathogenic Spinocerebellar ataxia type 14 2005-06-01 no assertion criteria provided literature only
GeneReviews RCV000014152 SCV000058620 not provided Spinocerebellar ataxia type 14 no assertion provided literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001698941 SCV001926944 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001698941 SCV001966401 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001698941 SCV001979708 likely pathogenic not provided no assertion criteria provided clinical testing

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