ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3072dup (p.Arg1025fs)

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003985948 SCV004801759 pathogenic Episodic ataxia type 2 2024-03-22 criteria provided, single submitter clinical testing

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