ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4635C>T (p.Phe1545=)

gnomAD frequency: 0.00885  dbSNP: rs58110336
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086007 SCV000632168 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711102 SCV000841429 benign not provided 2017-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000711102 SCV001767011 likely benign not provided 2020-12-22 criteria provided, single submitter clinical testing

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