ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe)

dbSNP: rs2122988567
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647199 SCV001519180 likely pathogenic Spinocerebellar ataxia type 14 2021-07-12 criteria provided, single submitter research
MGZ Medical Genetics Center RCV001647199 SCV002581255 likely pathogenic Spinocerebellar ataxia type 14 2021-11-09 criteria provided, single submitter clinical testing

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