ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6230G>A (p.Arg2077His)

gnomAD frequency: 0.64981  dbSNP: rs1054645
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082076 SCV000114015 benign not specified 2013-07-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000600827 SCV000744007 benign Epilepsy, childhood absence, susceptibility to, 6 2017-07-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711124 SCV000841452 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515307 SCV001723352 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000711124 SCV001830389 benign not provided 2019-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711124 SCV005296940 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000600827 SCV000733489 benign Epilepsy, childhood absence, susceptibility to, 6 no assertion criteria provided clinical testing

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