ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3311G>A (p.Arg1104Gln)

gnomAD frequency: 0.00003  dbSNP: rs775183925
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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 RCV001224269 SCV001396456 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480740 SCV002779970 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-16 criteria provided, single submitter clinical testing

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