ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=)

gnomAD frequency: 0.00667  dbSNP: rs59636120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001084859 SCV000632110 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-02-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711080 SCV000841407 benign not provided 2018-05-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490980 SCV002801864 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711080 SCV005296437 benign not provided criteria provided, single submitter not provided

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