ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2229G>A (p.Thr743=)

gnomAD frequency: 0.00058  dbSNP: rs111986908
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635098 SCV000756476 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392475 SCV004133635 benign not provided 2022-07-01 criteria provided, single submitter clinical testing CACNA1H: BS1, BS2

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