ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.2124C>T (p.Asn708=)

gnomAD frequency: 0.00061  dbSNP: rs372607441
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001684928 SCV001903623 benign not provided 2021-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001684928 SCV002403799 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458747 SCV004179596 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001684928 SCV005282403 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003948670 SCV004759444 likely benign CACNA1E-related disorder 2024-05-18 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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