ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2293A>G (p.Lys765Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466829 SCV002761555 uncertain significance Episodic ataxia type 2 2021-05-24 criteria provided, single submitter clinical testing

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