ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter)

dbSNP: rs2055612253
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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 RCV001253514 SCV001429256 likely pathogenic Spinocerebellar ataxia type 6 2019-11-25 criteria provided, single submitter clinical testing

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