ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=)

gnomAD frequency: 0.00008  dbSNP: rs375518094
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995460 SCV001149638 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001058782 SCV001223375 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-06-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497301 SCV002791395 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331015 SCV004039202 likely benign not specified 2023-08-23 criteria provided, single submitter clinical testing

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