ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3276A>T (p.Pro1092=)

gnomAD frequency: 0.00080  dbSNP: rs200569619
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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 RCV000532656 SCV000632125 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392371 SCV004133643 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing CACNA1H: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004541663 SCV004762558 likely benign CACNA1H-related disorder 2019-11-12 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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