ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr)

gnomAD frequency: 0.00001  dbSNP: rs201398669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002049964 SCV002115693 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478081 SCV002793603 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2021-11-29 criteria provided, single submitter clinical testing

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