ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6248C>T (p.Pro2083Leu)

gnomAD frequency: 0.00001  dbSNP: rs759924732
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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 RCV001035613 SCV001198947 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004721712 SCV005329810 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing CACNA1H: BP4

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