ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.789_793delinsGAGCTG (p.Asp263fs)

dbSNP: rs2133780371
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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 Medical Genetics and Molecular Medicine, Haukeland University Hospital RCV001353196 SCV001435355 pathogenic Beckwith-Wiedemann syndrome; IMAGe syndrome 2020-10-05 criteria provided, single submitter clinical testing

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