ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro)

dbSNP: rs397515476
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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 RCV001268855 SCV001448061 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000056299 SCV000087468 pathogenic Spinocerebellar ataxia type 19/22 2012-12-01 no assertion criteria provided literature only
O&I group, Department of Genetics, University Medical Center of Groningen RCV000056299 SCV001960832 pathogenic Spinocerebellar ataxia type 19/22 2021-07-22 no assertion criteria provided research

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