ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser)

dbSNP: rs767000559
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594032 SCV000701914 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854006 SCV002161426 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2025-01-27 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001528103 SCV001739274 likely benign Developmental and epileptic encephalopathy, 42 no assertion criteria provided clinical testing

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