ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.6567C>T (p.Ser2189=)

gnomAD frequency: 0.01214  dbSNP: rs34942364
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001687014 SCV001901311 benign not provided 2021-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001687014 SCV002410314 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458748 SCV004179701 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001687014 SCV005282451 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975958 SCV004789954 benign CACNA1E-related disorder 2023-11-30 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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