ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1943C>T (p.Pro648Leu)

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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 RCV003064297 SCV003443014 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-04-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010904 SCV005643212 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-06-18 criteria provided, single submitter clinical testing

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