ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.1371T>C (p.Tyr457=)

gnomAD frequency: 0.00003  dbSNP: rs903431469
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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 RCV002130931 SCV002456586 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003971075 SCV004785350 likely benign CACNA1E-related disorder 2019-08-27 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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