ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2338G>T (p.Val780Phe)

gnomAD frequency: 0.00033  dbSNP: rs60534546
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533221 SCV000632102 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV005000145 SCV005621829 likely benign not specified 2024-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537925 SCV004724669 likely benign CACNA1H-related disorder 2022-08-15 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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