ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2520G>A (p.Ala840=)

gnomAD frequency: 0.00001  dbSNP: rs1367532933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585401 SCV001819297 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072325 SCV002338829 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-22 criteria provided, single submitter clinical testing

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