ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1915G>A (p.Gly639Arg)

dbSNP: rs1555512240
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000515664 SCV000611782 uncertain significance Epilepsy, childhood absence, susceptibility to, 6 2017-09-08 criteria provided, single submitter clinical testing

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