ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2030C>T (p.Ser677Leu)

gnomAD frequency: 0.00051  dbSNP: rs181892888
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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 RCV000539819 SCV000632097 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541662 SCV004771844 benign CACNA1H-related disorder 2019-08-09 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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