ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1993G>A (p.Gly665Arg)

gnomAD frequency: 0.00003  dbSNP: rs761785619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995451 SCV001149625 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001316967 SCV001507609 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-07-07 criteria provided, single submitter clinical testing

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