ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.108G>C (p.Pro36=)

gnomAD frequency: 0.00241  dbSNP: rs28365126
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549739 SCV000632075 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001764549 SCV002007876 likely benign not provided 2021-04-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001764549 SCV005216842 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004537922 SCV004738339 benign CACNA1H-related disorder 2019-09-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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