ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.294-6C>T

gnomAD frequency: 0.00006  dbSNP: rs764502828
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697818 SCV000526282 benign not provided 2019-12-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000884519 SCV001027905 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985338 SCV004732794 likely benign CACNA1A-related disorder 2022-01-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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