ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5921A>G (p.Glu1974Gly)

gnomAD frequency: 0.05247  dbSNP: rs3751886
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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 RCV000517901 SCV000612587 benign not specified 2017-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000529788 SCV000632208 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001712478 SCV001944809 benign not provided 2020-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712478 SCV005296930 benign not provided criteria provided, single submitter not provided

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