ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.528C>T (p.Phe176=)

gnomAD frequency: 0.00002  dbSNP: rs763776082
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000926152 SCV001071712 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392696 SCV004133621 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing CACNA1H: BP4, BP7

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