ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4378G>A (p.Glu1460Lys)

gnomAD frequency: 0.00021  dbSNP: rs755817927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533135 SCV000632162 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392374 SCV004133656 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing CACNA1H: BS1

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