ClinVar Miner

Variants in gene NSD1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
506 241 1156 829 280 1 43 2639

Condition and significance breakdown #

Total conditions: 45
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not provided 278 90 694 689 256 0 0 1853
Sotos syndrome 276 138 372 106 63 0 2 891
Inborn genetic diseases 28 5 186 169 33 0 0 421
not specified 2 0 48 93 58 0 0 192
NSD1-related disorder 5 6 38 55 7 0 0 111
Beckwith-Wiedemann syndrome 21 4 3 2 1 0 0 31
See cases 2 5 1 0 0 0 0 8
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 7 7
Acute myeloid leukemia; Sotos syndrome 2 1 3 0 0 0 0 6
Intellectual disability 2 0 0 4 0 0 0 6
Melanoma 0 0 0 0 0 0 4 4
Neurodevelopmental disorder 2 2 0 0 0 0 0 4
Familial cancer of breast 0 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 3 3
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 3 3
Beckwith-Wiedemann syndrome; Sotos syndrome 0 1 1 0 0 0 0 2
Clear cell carcinoma of kidney 0 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 0 2 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 2 2
Pancreatic adenocarcinoma 0 0 0 0 0 0 2 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 2 2
Abnormal cerebral morphology 0 0 1 0 0 0 0 1
Acute myeloid leukemia 1 0 0 0 0 0 0 1
Cervical cancer 0 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 0 1 1
Choroid plexus carcinoma 0 0 0 0 0 1 0 1
Congenital diaphragamitc hernia 0 0 1 0 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 0 1 1
Hereditary cancer 0 0 0 1 0 0 0 1
Hereditary spastic paraplegia 8 0 0 1 0 0 0 0 1
Holoprosencephaly 2 0 1 0 0 0 0 0 1
Hypertelorism; Global developmental delay; Scoliosis; Hypoplasia of the corpus callosum; Delayed speech and language development; Delayed gross motor development; High anterior hairline 0 1 0 0 0 0 0 1
Lymphoma 0 0 0 0 0 0 1 1
Marfanoid habitus and intellectual disability 0 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 1
Neoplasm 0 1 0 0 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 0 1
Non-immune hydrops fetalis 1 0 0 0 0 0 0 1
Preeclampsia; Tall stature; Overgrowth; Pointed chin; Delayed speech and language development; Macrocephaly; High forehead; Osteopenia; Increased body weight 0 1 0 0 0 0 0 1
Sarcoma 0 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 130
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 196 44 434 576 190 0 0 1437
GeneDx 122 39 188 96 120 0 0 565
Ambry Genetics 28 5 186 169 33 0 0 421
Fulgent Genetics, Fulgent Genetics 3 3 228 47 7 0 0 288
Genetic Services Laboratory, University of Chicago 141 23 34 20 40 0 0 258
Genome-Nilou Lab 49 11 30 40 59 0 0 189
CeGaT Center for Human Genetics Tuebingen 16 6 45 95 5 0 0 167
PreventionGenetics, part of Exact Sciences 5 6 38 76 28 0 0 153
Eurofins Ntd Llc (ga) 12 0 56 6 26 0 0 100
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 2 37 22 1 0 0 67
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 41 41
3billion 11 12 7 1 0 0 0 31
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 18 5 5 1 0 0 0 29
Revvity Omics, Revvity 5 2 17 0 0 0 0 24
Mendelics 12 2 3 1 5 0 0 23
Baylor Genetics 9 3 10 0 0 0 0 22
Center for Human Genetics, Inc, Center for Human Genetics, Inc 3 5 6 5 1 0 0 20
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 19 0 0 0 20
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 6 12 0 0 19
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 17 0 0 0 0 19
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 9 6 0 0 0 0 19
Breakthrough Genomics, Breakthrough Genomics 0 0 1 17 0 0 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 5 4 1 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 2 7 5 0 0 0 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 1 1 10 0 0 13
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 3 1 1 0 0 0 13
New York Genome Center 0 1 12 0 0 0 0 13
OMIM 13 0 0 0 0 0 0 13
Juno Genomics, Hangzhou Juno Genomics, Inc 6 5 0 0 0 0 0 11
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 9 2 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 3 6 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 4 0 5 1 0 0 0 10
MGZ Medical Genetics Center 3 3 4 0 0 0 0 10
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 1 0 3 0 0 0 9
MVZ Martinsried, Medicover Genetics 3 2 4 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 1 4 0 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 6 0 0 7
Institute of Human Genetics, University of Goettingen 1 5 0 1 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 3 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 3 0 0 0 0 6
Dasa 3 0 1 0 1 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 2 0 0 0 4
Center of Human Genetics, Hôpital Erasme 1 3 0 0 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 1 0 3 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 1 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 2 0 0 0 0 4
Center for Personalized Medicine, Children's Hospital Los Angeles 1 2 0 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 2 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 0 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 1 0 0 0 0 3
Department of Medical Genetics, National Institute of Health 3 0 0 0 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 3 0 0 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 2 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 1 0 0 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 2 1 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 1 0 0 0 0 0 3
MVZ Medizinische Genetik Mainz 1 0 2 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 1 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 1 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 1 0 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 1 0 1 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 2 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 0 2
Illumina Laboratory Services, Illumina 2 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 1 1 0 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 0 1
Athena Diagnostics 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 1 0 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 0 1
Department of Clinical Genetics, Aarhus University Hospital 0 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 0 1
Department of Medical Genetics, Hunan Children's Hospital 1 0 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
Department of Precision Medicine, Korea National Institute of Health 1 0 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 1 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 1
Faculty of Engineering and Natural Sciences, Biruni University 0 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Genos 1 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 0 1
Obstetrics Unit, Tongji Hospital, Huazhong University of Science and Technology 0 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 1

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