ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.7031C>T (p.Ala2344Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005017635 SCV005645225 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005223173 SCV005867314 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-08-24 criteria provided, single submitter clinical testing

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