ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.61A>G (p.Lys21Glu)

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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 RCV002466336 SCV002761290 likely pathogenic Developmental and epileptic encephalopathy, 54 2022-02-03 criteria provided, single submitter clinical testing

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