ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser)

gnomAD frequency: 0.00002  dbSNP: rs762006290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315986 SCV001506583 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476470 SCV002794042 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2022-03-29 criteria provided, single submitter clinical testing

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