ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5823G>A (p.Ser1941=)

gnomAD frequency: 0.00005  dbSNP: rs377279064
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057678 SCV001222182 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-05-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693535 SCV005194082 uncertain significance not provided criteria provided, single submitter not provided

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