ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3658C>G (p.Gln1220Glu)

gnomAD frequency: 0.00009  dbSNP: rs775405041
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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 RCV000686467 SCV000813986 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477526 SCV002788470 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-01-06 criteria provided, single submitter clinical testing

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