ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2114G>T (p.Arg705Leu)

dbSNP: rs200422681
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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 RCV002031499 SCV002311916 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498082 SCV002794230 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-02 criteria provided, single submitter clinical testing

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