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 not provided total
381 93 656 348 127 2 1436

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHARGE association 257 62 409 165 70 1 933
not provided 127 27 130 74 38 1 387
Hypogonadotropic hypogonadism 5 with or without anosmia 8 4 124 40 42 0 218
not specified 4 1 26 99 63 0 166
History of neurodevelopmental disorder 1 0 29 58 30 0 118
Inborn genetic diseases 23 3 10 0 0 0 36
CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 7 1 16 0 0 0 24
Hypogonadism with anosmia 0 0 20 2 1 0 23
none provided 5 0 0 1 4 0 10
Intellectual disability 0 0 0 8 0 0 8
Hearing impairment 0 0 3 1 0 0 4
Neurodevelopmental disorder 0 0 2 0 0 0 2
Scoliosis, idiopathic 3 1 0 1 0 0 0 2
Atrial septal defect; Choanal atresia; Abnormal facial shape; Pyloric stenosis 0 1 0 0 0 0 1
Atrioventricular septal defect 0 0 1 0 0 0 1
CHD7-related disorders 0 1 0 0 0 0 1
Chromatinopathy 1 0 0 0 0 0 1
Congenital heart disease (variable) 0 1 0 0 0 0 1
Craniofacial-ulnar-renal syndrome 1 0 0 0 0 0 1
Hearing impairment; Pulmonary artery atresia; Retinal coloboma; Chorioretinal coloboma 1 0 0 0 0 0 1
Hearing impairment; Ventricular septal defect 0 0 1 0 0 0 1
Hypogonadotropic hypogonadism 5 without anosmia 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 1
Poor coordination; Scoliosis; Hypothyroidism; Myopia (disease); Progressive hearing impairment; Dolichocephaly 1 0 0 0 0 0 1
Premature ovarian failure 0 0 0 0 1 0 1
See cases 0 0 0 1 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 82
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 146 16 349 205 73 0 789
Illumina Clinical Services Laboratory,Illumina 0 1 140 42 43 0 226
GeneDx 97 17 35 32 16 0 197
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 24 0 84 11 36 0 155
Ambry Genetics 24 3 39 58 30 0 154
Genetic Services Laboratory, University of Chicago 31 3 21 19 22 0 94
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 12 23 30 0 68
PreventionGenetics, PreventionGenetics 0 0 0 31 31 0 62
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 26 4 7 0 8 0 44
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 13 1 0 3 16 0 33
Integrated Genetics/Laboratory Corporation of America 2 1 3 4 11 0 21
Baylor Genetics 8 3 8 0 0 0 19
Athena Diagnostics Inc 1 0 2 3 13 0 19
Center for Human Genetics, Inc,Center for Human Genetics, Inc 5 6 5 2 1 0 19
CeGaT Praxis fuer Humangenetik Tuebingen 7 4 5 3 0 0 19
OMIM 16 0 1 0 0 0 17
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 1 11 0 1 0 17
University of Washington Center for Mendelian Genomics, University of Washington 0 15 0 0 0 0 15
SBielas Lab, Department of Human Genetics,University of Michigan 15 0 0 0 0 0 15
Fulgent Genetics,Fulgent Genetics 4 1 8 0 0 0 13
Mendelics 5 1 2 2 2 0 12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 8 0 1 0 0 0 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 2 4 2 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 8 0 0 8
Laboratoire de Genetique Biologique, CHU de Poitiers 7 1 0 0 0 0 8
Gharavi Laboratory,Columbia University 0 0 8 0 0 0 8
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 4 3 0 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 1 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 1 0 0 0 0 7
Autoinflammatory diseases unit,CHU de Montpellier 7 0 0 0 0 0 7
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 6 0 6
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 1 0 3 1 0 6
Clinical Genetics laboratory, University of Goettingen 3 2 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 1 1 0 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 1 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 3 1 0 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 3 1 0 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 0 0 0 4
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 0 3 1 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 0 1 0 0 0 3
Institute of Human Genetics,Cologne University 1 2 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 1 0 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 2 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 1 2 0 3
New York Genome Center 0 0 3 0 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 1 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 0 0 0 0 2
The Translational Medicine Center of Children Development and Disease,Fudan University 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 2 0 0 0 0 0 2
Richard Lifton Laboratory, Yale University School of Medicine 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
ISCA site 6 0 0 0 1 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Fukami Lab, Dept of Molecular Endocrinology,National Research Institute for Child Health and Development 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Genetic Outpatient Clinic,Children's Memorial Health Institute 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Genetics Department,Polish Mother's Memorial Hospital Research Institute 1 0 0 0 0 0 1
Genetics,Children's Hospital New Orleans 0 0 1 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 0 0 0 0 1
Human Developmental Genetics,Institut Pasteur 0 0 1 0 0 0 1
Institute of Biomedical Sciences, Faculty of Medicine,Vilnius university 1 0 0 0 0 0 1

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