ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6408C>T (p.Asp2136=)

gnomAD frequency: 0.00002  dbSNP: rs779701046
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698227 SCV000531560 likely benign not provided 2018-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059917 SCV002321781 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-12 criteria provided, single submitter clinical testing

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