ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3218C>T (p.Ser1073Phe)

dbSNP: rs369474500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813436 SCV000953796 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-06-18 criteria provided, single submitter clinical testing
New York Genome Center RCV001542385 SCV001761081 uncertain significance Epilepsy, childhood absence, susceptibility to, 6 2020-07-14 criteria provided, single submitter clinical testing

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