ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4365G>A (p.Lys1455=)

gnomAD frequency: 0.00004  dbSNP: rs373587418
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554832 SCV000632161 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392373 SCV004133655 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing CACNA1H: BP4, BP7

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