ClinVar Miner

Variants in gene ZNF292

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Minimum submission review status: Collection method:
Minimum conflict level:
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
42 68 355 172 36 1 630

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 19 16 123 77 24 1 254
Inborn genetic diseases 10 3 140 89 0 0 242
Intellectual developmental disorder, autosomal dominant 64 19 23 50 3 1 0 94
ZNF292-related disorder 0 5 24 25 14 0 68
Neurodevelopmental disorder 2 23 11 0 0 0 35
not specified 0 0 19 1 3 0 23
Intellectual disability 2 4 2 1 0 0 9
See cases 0 0 3 0 0 0 3
Complex neurodevelopmental disorder 0 0 2 0 0 0 2
Arterial calcification, generalized, of infancy, 1 0 0 1 0 0 0 1
Autism 0 1 0 0 0 0 1
Autosomal dominant non-syndromic intellectual disability 0 1 0 0 0 0 1
Motor delay 0 1 0 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1
Short stature; Microcephaly; Intellectual disability, mild 0 1 0 0 0 0 1
ZNF292-related neurodevelopmental condition 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 10 3 140 89 0 0 242
GeneDx 11 9 86 0 5 0 111
CeGaT Center for Human Genetics Tuebingen 1 2 18 75 5 0 101
PreventionGenetics, part of Exact Sciences 0 5 24 25 14 0 68
University of Washington Center for Mendelian Genomics, University of Washington 0 23 11 0 0 0 34
Labcorp Genetics (formerly Invitae), Labcorp 5 2 7 3 15 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 17 1 0 0 18
Revvity Omics, Revvity 1 0 13 0 0 0 14
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 9 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 4 1 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 0 9 0 0 0 9
OMIM 7 0 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 3 1 0 0 7
Diagnostic Laboratory, Strasbourg University Hospital 0 4 2 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 4 0 0 0 0 6
3billion 1 5 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 5 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 3 0 0 0 5
Mendelics 0 0 0 0 4 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 2 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 1 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 1 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
DASA 1 1 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 1
Centre for Human Genetics, University of Kinshasa 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Centre for Addiction & Mental Health, Centre for Addiction & Mental Health 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1

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