ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4591-2A>G

dbSNP: rs1600180659
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000995711 SCV001150033 likely pathogenic Episodic ataxia type 2 2020-01-17 criteria provided, single submitter clinical testing

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