ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4023G>A (p.Ala1341=)

gnomAD frequency: 0.04584  dbSNP: rs28365124
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711094 SCV000841421 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522989 SCV001732634 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000711094 SCV001851310 benign not provided 2019-11-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711094 SCV005296453 benign not provided criteria provided, single submitter not provided

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