ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4224-6C>T

gnomAD frequency: 0.00386  dbSNP: rs72552039
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539719 SCV000632157 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497093 SCV002805450 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-21 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573157 SCV001798589 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573157 SCV001928088 likely benign not provided no assertion criteria provided clinical testing

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