ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1943T>C (p.Met648Thr)

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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 RCV002466317 SCV002761272 likely pathogenic Developmental and epileptic encephalopathy, 31A 2022-02-03 criteria provided, single submitter clinical testing

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