ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1799C>T (p.Ala600Val)

gnomAD frequency: 0.00003  dbSNP: rs759349379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711065 SCV000841392 uncertain significance not provided 2017-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768100 SCV004570682 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010719 SCV005643203 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-04-19 criteria provided, single submitter clinical testing

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