ClinVar Miner

Variants in gene NFIX

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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 not provided total
113 65 125 146 35 2 459

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Marshall-Smith syndrome; Malan overgrowth syndrome 27 10 46 109 19 2 211
not provided 43 22 47 35 18 0 162
Malan overgrowth syndrome 26 21 7 0 0 0 53
Marshall-Smith syndrome 28 8 3 1 0 0 40
Inborn genetic diseases 4 2 22 2 0 0 30
NFIX-related disorder 3 0 4 5 1 0 13
not specified 0 0 3 5 1 0 9
Intellectual disability 0 2 0 1 0 0 3
Marfanoid habitus and intellectual disability 0 3 0 0 0 0 3
See cases 1 1 1 0 0 0 3
Congenital laryngomalacia; Megalocornea; Global developmental delay; Pointed chin; Hypoplasia of the corpus callosum; Blue sclerae; Proptosis; Proximal placement of thumb; Short nose; Strabismus; High, narrow palate; Distal ulnar hypoplasia; Long toe; Midface retrusion; Long fingers 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 25 4 44 115 20 0 208
GeneDx 34 10 36 26 16 0 122
Ambry Genetics 4 2 22 2 0 0 30
CeGaT Center for Human Genetics Tuebingen 8 7 6 7 0 0 28
OMIM 15 0 0 0 0 0 15
Breakthrough Genomics, Breakthrough Genomics 0 0 1 6 7 0 14
PreventionGenetics, part of Exact Sciences 3 0 4 5 1 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 2 2 0 0 7
Mendelics 5 0 0 1 0 0 6
Genetic Services Laboratory, University of Chicago 4 0 1 0 0 0 5
3billion 0 5 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 1 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 0 1 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 2 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Revvity Omics, Revvity 0 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 0 0 3
New York Genome Center 1 0 2 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Illumina Laboratory Services, Illumina 0 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 1 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 2 0 0 0 0 2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 1 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 1 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 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 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Medical Genetics UTHealth at Houston, UTHealth at Houston 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 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 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1
Department Of Medical Genetics, Apollo Hospitals 0 1 0 0 0 0 1

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