ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1516C>T (p.Arg506Trp)

dbSNP: rs58593315
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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 RCV001226975 SCV001399308 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005014263 SCV005645622 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-03-27 criteria provided, single submitter clinical testing

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