ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.390C>T (p.Ser130=)

gnomAD frequency: 0.03762  dbSNP: rs59794024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545608 SCV000632146 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001637068 SCV001849238 benign not provided 2020-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001637068 SCV005294457 benign not provided criteria provided, single submitter not provided

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