ClinVar Miner

Variants in gene CHD7

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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 association not found not provided total
531 170 1352 1235 469 1 5 3233

Condition and significance breakdown #

Total conditions: 39
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not found not provided total
CHARGE association 381 115 707 964 350 1 2 2459
not provided 166 41 418 242 165 0 1 940
Inborn genetic diseases 34 7 159 172 33 0 0 405
CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 9 1 128 76 7 0 2 223
Hypogonadotropic hypogonadism 5 with or without anosmia 9 6 120 37 46 0 0 218
CHD7-related condition 14 9 58 96 7 0 0 184
not specified 6 1 42 88 73 0 0 182
Hypogonadism with anosmia 0 0 20 1 1 0 0 22
Intellectual disability 0 0 0 8 0 0 0 8
See cases 2 0 5 1 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
CHD7-related disorder 1 0 0 0 0 0 0 1
CHD7-related disorders 0 1 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
Hearing impairment; Pulmonary artery atresia; Retinal coloboma; Chorioretinal coloboma 1 0 0 0 0 0 0 1
Hearing impairment; Ventricular septal defect 0 0 1 0 0 0 0 1
Hypogonadotropic hypogonadism 1 0 0 0 0 0 0 1
Hypogonadotropic hypogonadism 5 without anosmia 1 0 0 0 0 0 0 1
Iris coloboma 1 0 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: 140
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not found not provided total
Invitae 239 28 622 971 345 0 0 2205
GeneDx 121 26 258 164 159 0 0 728
Ambry Genetics 34 7 159 172 33 0 0 405
PreventionGenetics, part of Exact Sciences 14 9 58 125 36 0 0 242
Illumina Laboratory Services, Illumina 2 1 137 38 42 0 0 220
Fulgent Genetics, Fulgent Genetics 4 1 122 74 7 0 0 208
Eurofins Ntd Llc (ga) 24 0 81 11 35 0 0 151
CeGaT Center for Human Genetics Tuebingen 14 6 40 72 11 0 0 143
Genetic Services Laboratory, University of Chicago 32 3 33 22 30 0 0 120
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 12 22 29 0 0 66
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 8 8 15 0 0 37
Baylor Genetics 15 7 9 0 0 0 0 31
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 11 1 1 3 15 0 0 31
Clinical Genetics, Academic Medical Center 0 0 2 2 26 0 0 30
Athena Diagnostics Inc 4 0 4 2 13 0 0 23
3billion 13 6 3 0 0 0 0 22
Center for Human Genetics, Inc, Center for Human Genetics, Inc 5 6 5 1 1 0 0 18
OMIM 16 0 1 0 0 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 2 8 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 11 2 1 0 0 0 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 9 4 0 0 13
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 11 2 0 0 0 0 0 13
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 10 0 2 0 0 0 0 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 5 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 1 0 5 3 0 0 10
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 8 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
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
New York Genome Center 1 0 7 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 6 0 0 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 1 0 6 0 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
Institute of Human Genetics, University of Leipzig Medical Center 3 2 2 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
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 6 0 0 6
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
Daryl Scott Lab, Baylor College of Medicine 6 0 0 0 0 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
Institute of Human Genetics, Cologne University 2 3 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 1 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
Genetics and Molecular Pathology, SA Pathology 3 1 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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 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
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
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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 0 2
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
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
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
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
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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 0 0 0 0 0 2
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 0 2
DASA 1 1 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 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
Richard Lifton Laboratory, Yale University School of Medicine 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 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
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 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
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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 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
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

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