ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2242G>A (p.Ala748Thr)

gnomAD frequency: 0.00001  dbSNP: rs746275171
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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 RCV001239286 SCV001412145 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-09-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012667 SCV005643240 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-03-11 criteria provided, single submitter clinical testing

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