ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg)

gnomAD frequency: 0.00004  dbSNP: rs765523382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311172 SCV001501243 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing CACNA1A: PP3
Fulgent Genetics, Fulgent Genetics RCV002499596 SCV002805600 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2021-09-28 criteria provided, single submitter clinical testing

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