ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6417T>C (p.Asp2139=)

gnomAD frequency: 0.85388  dbSNP: rs4247094
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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) RCV000082078 SCV000114017 benign not specified 2013-07-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000607902 SCV000744008 benign Epilepsy, childhood absence, susceptibility to, 6 2017-07-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711128 SCV000841456 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515308 SCV001723353 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000711128 SCV001832715 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711128 SCV005296943 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000607902 SCV000733490 benign Epilepsy, childhood absence, susceptibility to, 6 no assertion criteria provided clinical testing

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