ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.546-10C>T

gnomAD frequency: 0.01282  dbSNP: rs35509671
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518163 SCV000612584 benign not specified 2017-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000550382 SCV000632195 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV002285348 SCV002575465 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV002285348 SCV005296392 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004535668 SCV004731098 benign CACNA1H-related disorder 2019-04-12 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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