ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5445+4C>T

gnomAD frequency: 0.00295  dbSNP: rs147142971
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080815 SCV000632193 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711112 SCV000841440 benign not provided 2018-03-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711112 SCV002545326 benign not provided 2022-07-01 criteria provided, single submitter clinical testing CACNA1H: BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002506315 SCV002808977 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-30 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000711112 SCV001798600 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702500 SCV001927600 benign not specified no assertion criteria provided clinical testing

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