ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.926G>A (p.Arg309His)

gnomAD frequency: 0.00021  dbSNP: rs201651793
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087833 SCV000632248 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733888 SCV000861991 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing

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