ClinVar Miner

Submissions for variant NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)

dbSNP: rs772470710
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Total submissions: 4
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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 RCV001253692 SCV001429539 uncertain significance Neurodevelopmental delay 2018-08-27 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468605 SCV002764950 pathogenic Macroglossia; Clubfoot; Retrognathia; Hypoglycemia; Anemia; Hepatomegaly; Enlarged kidney; Furrowed tongue; Hypertrophic cardiomyopathy; Persistent patent ductus venosus; Thrombocytopenia; Ventricular septal defect; Intracranial hemorrhage 2019-07-08 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003992394 SCV004812156 uncertain significance Rauch-Steindl syndrome 2019-04-01 criteria provided, single submitter clinical testing published in PMID: 36189577
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center RCV000790856 SCV000930028 uncertain significance Lymphoma 2019-07-25 no assertion criteria provided clinical testing

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