ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3178G>A (p.Val1060Met)

dbSNP: rs369966669
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053151 SCV001217398 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481975 SCV002791521 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693523 SCV005194076 uncertain significance not provided criteria provided, single submitter not provided

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