ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5208C>T (p.Arg1736=)

gnomAD frequency: 0.00006  dbSNP: rs112395878
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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 RCV000902929 SCV001047372 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-09-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392685 SCV004133663 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing CACNA1H: BP4, BP7

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