ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.347A>G (p.His116Arg)

dbSNP: rs2068657131
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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002464429 SCV002759370 uncertain significance Spinocerebellar ataxia type 14; Autosomal dominant cerebellar ataxia 2022-12-08 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Goettingen RCV001256678 SCV001423579 likely pathogenic Spinocerebellar ataxia type 14 2020-06-12 no assertion criteria provided clinical testing Spinocerebellar ataxia 14

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