ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5947T>C (p.Leu1983=)

gnomAD frequency: 0.63925  dbSNP: rs2738893
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000613373 SCV000744006 benign Epilepsy, childhood absence, susceptibility to, 6 2017-07-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711119 SCV000841447 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515306 SCV001723351 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000711119 SCV001943512 benign not provided 2019-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711119 SCV005296931 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000613373 SCV000733488 benign Epilepsy, childhood absence, susceptibility to, 6 no assertion criteria provided clinical testing

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