ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.270C>G (p.Arg90=)

gnomAD frequency: 0.00390  dbSNP: rs577235589
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549030 SCV000632112 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711081 SCV000841408 benign not provided 2017-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000711081 SCV001819083 likely benign not provided 2020-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506312 SCV002803710 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-08-04 criteria provided, single submitter clinical testing

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