ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3957T>C (p.Asp1319=)

gnomAD frequency: 0.85136  dbSNP: rs8063574
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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) RCV000082071 SCV000114010 benign not specified 2013-07-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000601735 SCV000744004 benign Epilepsy, childhood absence, susceptibility to, 6 2017-07-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711092 SCV000841419 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515300 SCV001723345 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000711092 SCV001943513 benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711092 SCV005296451 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601735 SCV000733486 benign Epilepsy, childhood absence, susceptibility to, 6 no assertion criteria provided clinical testing

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