ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.3130T>C (p.Cys1044Arg)

dbSNP: rs1942882733
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253632 SCV001429461 uncertain significance Developmental and epileptic encephalopathy, 13 2018-06-13 criteria provided, single submitter clinical testing

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