ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3652G>A (p.Asp1218Asn)

gnomAD frequency: 0.00001  dbSNP: rs771215852
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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 RCV000635014 SCV000756392 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-04-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477393 SCV002775864 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-05-06 criteria provided, single submitter clinical testing

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