ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)

dbSNP: rs121918511
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Total submissions: 4
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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 RCV001268861 SCV001448069 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000014149 SCV000034397 pathogenic Spinocerebellar ataxia type 14 2003-04-01 no assertion criteria provided literature only
GeneReviews RCV000014149 SCV000058617 not provided Spinocerebellar ataxia type 14 no assertion provided literature only
Codex Genetics Limited RCV000014149 SCV000996002 pathogenic Spinocerebellar ataxia type 14 2019-02-28 no assertion criteria provided provider interpretation

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