ClinVar Miner

Variants in gene CHD7

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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 association not found not provided total
598 208 1768 1427 505 1 5 3832

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not found not provided total
CHARGE syndrome 424 133 871 1111 391 1 2 2865
not provided 191 47 529 285 162 0 1 1103
Inborn genetic diseases 37 8 230 235 33 0 0 543
CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 13 3 347 103 7 0 2 475
CHD7-related disorder 26 14 87 112 7 0 0 246
Hypogonadotropic hypogonadism 5 with or without anosmia 15 10 124 37 46 0 0 232
not specified 6 1 53 92 74 0 0 198
Hypogonadism with anosmia 0 0 20 1 1 0 0 22
See cases 3 0 5 1 0 0 0 9
Intellectual disability 0 0 0 8 0 0 0 8
Amenorrhea 0 0 6 0 0 0 0 6
Hearing impairment 0 0 3 1 0 0 0 4
Bilateral hearing loss, bilateral enlarged vestibular aqueduct (EVA) 0 1 1 0 0 0 0 2
Childhood onset hearing loss 0 0 2 0 0 0 0 2
Neurodevelopmental disorder 0 0 2 0 0 0 0 2
Scoliosis, isolated, susceptibility to, 3 1 0 1 0 0 0 0 2
3MC syndrome 1 0 0 0 0 0 0 1
46,XY disorder of sex development 0 0 1 0 0 0 0 1
Atrial septal defect; Choanal atresia; Abnormal facial shape; Pyloric stenosis 0 1 0 0 0 0 0 1
Autism spectrum disorder 0 0 0 1 0 0 0 1
CHD7 disorder 1 0 0 0 0 0 0 1
Chromatinopathy 1 0 0 0 0 0 0 1
Developmental disorder 0 0 1 0 0 0 0 1
Familial atrioventricular septal defect 0 0 1 0 0 0 0 1
HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA 1 0 0 0 0 0 0 1
Hearing impairment; Pulmonary artery atresia; Retinal coloboma; Chorioretinal coloboma 1 0 0 0 0 0 0 1
Iris coloboma 1 0 0 0 0 0 0 1
Male infertility with spermatogenesis disorder 0 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 0 1
Poor coordination; Scoliosis; Hypothyroidism; Myopia; Progressive hearing impairment; Dolichocephaly 1 0 0 0 0 0 0 1
Premature ovarian failure 0 0 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 0 1
Pure gonadal dysgenesis 46,XY 0 0 1 0 0 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 157
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not found not provided total
Labcorp Genetics (formerly Invitae), Labcorp 262 31 770 1118 386 0 0 2567
GeneDx 142 30 356 165 159 0 0 852
Ambry Genetics 37 8 230 235 33 0 0 543
Fulgent Genetics, Fulgent Genetics 7 2 339 95 7 0 0 450
PreventionGenetics, part of Exact Sciences 23 13 87 141 36 0 0 300
Illumina Laboratory Services, Illumina 2 1 137 38 42 0 0 220
CeGaT Center for Human Genetics Tuebingen 17 7 52 118 8 0 0 202
Eurofins Ntd Llc (ga) 24 0 81 11 35 0 0 151
Genetic Services Laboratory, University of Chicago 32 3 33 22 30 0 0 120
Breakthrough Genomics, Breakthrough Genomics 1 0 7 20 43 0 0 71
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 12 22 29 0 0 66
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 4 19 14 20 0 0 64
Revvity Omics, Revvity 11 2 35 0 0 0 0 48
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 6 1 1 27 13 0 0 48
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 26 4 6 0 7 0 0 42
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 7 2 2 11 18 0 0 40
3billion 18 11 5 6 0 0 0 40
Baylor Genetics 18 7 10 0 0 0 0 35
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 13 1 1 3 15 0 0 33
Clinical Genetics, Academic Medical Center 0 0 2 2 26 0 0 30
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 15 3 10 0 0 0 0 28
Athena Diagnostics 4 0 4 2 14 0 0 24
Center for Human Genetics, Inc, Center for Human Genetics, Inc 5 6 5 1 1 0 0 18
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 15 2 1 0 0 0 0 18
OMIM 16 0 1 0 0 0 0 17
Mendelics 9 1 2 2 2 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 1 10 0 1 0 0 16
University of Washington Center for Mendelian Genomics, University of Washington 0 15 0 0 0 0 0 15
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 15 0 0 0 0 0 0 15
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 12 2 0 0 0 0 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 9 4 0 0 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 3 5 0 0 0 0 12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 10 0 2 0 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 6 2 3 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 1 0 5 3 0 0 10
New York Genome Center 3 0 7 0 0 0 0 10
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 8 0 0 0 9
Daryl Scott Lab, Baylor College of Medicine 8 0 1 0 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 1 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 4 1 4 0 0 0 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 1 7 0 0 0 9
MGZ Medical Genetics Center 0 3 5 0 0 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 2 0 6 0 0 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 2 4 1 0 0 8
Laboratoire de Genetique Biologique, CHU de Poitiers 7 1 0 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 2 0 0 0 8
Clinical Genetics Laboratory, Skane University Hospital Lund 4 1 3 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 2 0 6 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 6 0 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 3 1 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 3 0 0 0 0 0 7
Clinical Genetics and Genomics, Karolinska University Hospital 4 3 0 0 0 0 0 7
Gharavi Laboratory, Columbia University 0 0 7 0 0 0 0 7
Autoinflammatory diseases unit, CHU de Montpellier 7 0 0 0 0 0 0 7
Institute of Human Genetics, University of Goettingen 3 2 1 0 0 0 0 6
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 3 1 0 0 6
Yale Center for Mendelian Genomics, Yale University 0 0 6 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 0 1 0 0 0 0 6
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 3 3 0 0 0 0 0 6
Institute of Rare Diseases, West China Hospital, Sichuan University 2 4 0 0 0 0 0 6
Institute of Human Genetics, Cologne University 2 3 0 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 0 5
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 3 2 0 0 0 0 0 5
MVZ Medizinische Genetik Mainz 0 0 5 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 3 1 0 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 0 0 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 3 1 0 0 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 0 0 0 0 4
Lifecell International Pvt. Ltd 1 3 0 0 0 0 0 4
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 3 1 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 0 1 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 2 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 1 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 1 2 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 2 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 3 0 0 0 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 1 2 0 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 1 0 2 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 1 0 0 0 0 3
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 3 0 0 0 0 0 0 3
Provincial Medical Genetics Program of British Columbia, University of British Columbia 3 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 1 0 0 2
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 0 2 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 0 2
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 1 0 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 1 1 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 1 0 0 0 2
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 1 0 0 0 0 2
DASA 1 1 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 0 0 2
Otolaryngology Branch - NIDCD, NIH 0 1 1 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 1
ISCA Site 6 0 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 0 1
Department of Molecular Endocrinology, National Research Institute for Child Health and Development 1 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 1 0 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 1
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 0 1
The Translational Medicine Center of Children Development and Disease, Fudan University 1 0 0 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 1 0 0 0 0 0 0 1
Fukami Lab, Dept of Molecular Endocrinology, National Research Institute for Child Health and Development 1 0 0 0 0 0 0 1
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 0 0 1 0 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 1 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 0 1
Clinical Immunology, Karolinska University Hospital 1 0 0 0 0 0 0 1
Genetic Outpatient Clinic, Children's Memorial Health Institute 0 1 0 0 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 1 0 0 0 0 0 0 1
Genetics, Children's Hospital New Orleans 0 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 0 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 0 0 0 1 0 1
Institute of Biomedical Sciences, Faculty of Medicine, Vilnius university 1 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 1 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 1
Department for BioMedical Research, Inselspital, Bern University Hospital, University of Bern 0 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 1
Hebei Industrial Technology Research Institute of Genomics in Maternal & Child Health, BGI Genomics 1 0 0 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 0 1

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