ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3800G>A (p.Arg1267Gln)

gnomAD frequency: 0.00002  dbSNP: rs557125328
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288103 SCV001474967 uncertain significance not provided 2019-10-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871706 SCV002159894 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-05-15 criteria provided, single submitter clinical testing

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