ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro)

dbSNP: rs121918306
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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 RCV001682706 SCV001905640 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
OMIM RCV000005593 SCV000025775 pathogenic Spinocerebellar ataxia type 5 2010-09-15 no assertion criteria provided literature only

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