ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6013C>T (p.Arg2005Cys)

gnomAD frequency: 0.04911  dbSNP: rs72552056
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711120 SCV000841448 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512471 SCV001719898 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000711120 SCV001945237 benign not provided 2020-01-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17696120, 28933792, 29588962)
Breakthrough Genomics, Breakthrough Genomics RCV000711120 SCV005296932 benign not provided criteria provided, single submitter not provided

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