ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6532G>A (p.Ala2178Thr)

gnomAD frequency: 0.00005  dbSNP: rs771909122
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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 RCV001887311 SCV002159091 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-09-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482752 SCV002794201 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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