ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5493C>T (p.Tyr1831=)

gnomAD frequency: 0.00003  dbSNP: rs777510892
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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 RCV001459281 SCV001663120 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-03-08 criteria provided, single submitter clinical testing
GeneDx RCV001587422 SCV001823180 likely benign not provided 2020-11-03 criteria provided, single submitter clinical testing

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