ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2066C>T (p.Pro689Leu)

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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 RCV002630318 SCV002950094 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-02-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008659 SCV005643224 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-04-29 criteria provided, single submitter clinical testing

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