ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr)

gnomAD frequency: 0.00223  dbSNP: rs60445853
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945937 SCV001092012 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001573578 SCV004169894 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573578 SCV001799676 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573578 SCV001965707 likely benign not provided no assertion criteria provided clinical testing

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