ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2546C>T (p.Pro849Leu)

gnomAD frequency: 0.00050  dbSNP: rs571237069
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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 RCV000945341 SCV001091341 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021286 SCV005645338 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-06-03 criteria provided, single submitter clinical testing

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