ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3091_3094del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV003989467 SCV004808343 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-03-01 no assertion criteria provided clinical testing

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