ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro)

dbSNP: rs121918512
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Total submissions: 3
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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 RCV000014150 SCV002764240 pathogenic Spinocerebellar ataxia type 14 2022-12-16 criteria provided, single submitter clinical testing
OMIM RCV000014150 SCV000034398 pathogenic Spinocerebellar ataxia type 14 2003-04-01 no assertion criteria provided literature only
GeneReviews RCV000014150 SCV000058621 pathologic Spinocerebellar ataxia type 14 2013-04-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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