ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2289A>C (p.Ala763=)

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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 RCV003792698 SCV004576898 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-06-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542267 SCV004784676 likely benign CACNA1H-related disorder 2023-10-11 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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