ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3422G>A (p.Arg1141Gln)

gnomAD frequency: 0.00004  dbSNP: rs1002596641
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001369288 SCV001565722 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-09-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493883 SCV002796324 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-01-14 criteria provided, single submitter clinical testing

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