ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.2687T>G (p.Leu896Arg)

dbSNP: rs1891910013
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262760 SCV001440745 uncertain significance Spinocerebellar ataxia type 40 2020-08-31 criteria provided, single submitter clinical testing

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