ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.78C>G (p.Gly26=)

gnomAD frequency: 0.00001  dbSNP: rs748434655
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002157495 SCV002338615 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-07-25 criteria provided, single submitter clinical testing

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