ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5378A>G (p.Asn1793Ser)

gnomAD frequency: 0.00004  dbSNP: rs72552051
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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 RCV000635105 SCV000756483 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662677 SCV001880629 benign not specified 2021-03-19 criteria provided, single submitter clinical testing

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