ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1513C>T (p.Arg505Cys)

gnomAD frequency: 0.00636  dbSNP: rs60414549
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530824 SCV000632085 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001573356 SCV005296409 benign not provided criteria provided, single submitter not provided
Athena Diagnostics RCV001727741 SCV005621093 benign not specified 2024-06-04 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573356 SCV001799120 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727741 SCV001973412 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004541660 SCV004767125 benign CACNA1H-related disorder 2019-04-10 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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