ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2490C>T (p.Ile830=)

gnomAD frequency: 0.00003  dbSNP: rs766316929
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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 RCV002066136 SCV002362815 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543504 SCV004774456 likely benign CACNA1H-related disorder 2019-07-18 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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