ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val)

gnomAD frequency: 0.00015  dbSNP: rs763414737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002502004 SCV002811284 likely benign Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2021-09-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001663654 SCV001880662 benign not specified 2021-02-02 criteria provided, single submitter clinical testing

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