ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1654C>T (p.Arg552Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine RCV002466362 SCV002761264 likely pathogenic Epilepsy, childhood absence, susceptibility to, 6 2022-02-03 criteria provided, single submitter clinical testing

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