ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp)

dbSNP: rs1471641294
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000611141 SCV000744922 uncertain significance Spinocerebellar ataxia type 14 2017-05-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000611141 SCV000733920 uncertain significance Spinocerebellar ataxia type 14 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724087 SCV001959495 uncertain significance not provided no assertion criteria provided clinical testing
O&I group, Department of Genetics, University Medical Center of Groningen RCV000611141 SCV001960859 likely pathogenic Spinocerebellar ataxia type 14 2021-07-22 no assertion criteria provided research

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