ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3933C>G (p.Leu1311=)

gnomAD frequency: 0.00003  dbSNP: rs372081879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954350 SCV001100978 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-06-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726383 SCV001961781 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985467 SCV004759354 likely benign CACNA1A-related disorder 2020-03-20 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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