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
298 53 386 274 117 2 997

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHARGE association 189 29 231 48 15 1 501
not provided 121 21 126 136 92 1 464
not specified 4 1 23 95 61 0 155
Hypogonadism with anosmia 0 0 89 38 7 0 134
History of neurodevelopmental disorder 1 0 29 58 30 0 118
CHARGE association; Kallmann syndrome 5 6 1 14 0 0 0 21
Inborn genetic diseases 12 1 8 0 0 0 21
Kallmann syndrome 5 6 2 1 0 1 0 10
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
Hearing impairment; Pulmonary artery atresia; Retinal coloboma; Chorioretinal coloboma 1 0 0 0 0 0 1
Hypogonadotropic hypogonadism 5 without anosmia 1 0 0 0 0 0 1
Poor coordination; Scoliosis; Hypothyroidism; Myopia; Progressive hearing impairment; Dolichocephaly 1 0 0 0 0 0 1
Primary Ovarian Insufficiency 0 0 0 0 1 0 1
Scoliosis, idiopathic 3 0 0 1 0 0 0 1
See cases 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 80 5 117 136 73 0 411
GeneDx 97 17 35 32 16 0 197
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 24 0 84 11 36 0 155
Ambry Genetics 13 1 37 58 30 0 139
Illumina Clinical Services Laboratory,Illumina 0 0 89 38 7 0 134
Genetic Services Laboratory, University of Chicago 31 3 21 20 21 0 94
PreventionGenetics,PreventionGenetics 0 0 0 31 31 0 62
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 10 15 23 0 48
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 26 4 7 0 8 0 44
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 8 1 0 2 15 0 26
Center for Human Genetics, Inc 5 6 5 2 1 0 19
OMIM 16 0 1 0 0 0 17
Athena Diagnostics Inc 1 0 2 3 11 0 17
Integrated Genetics/Laboratory Corporation of America 2 0 2 3 9 0 16
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 2 4 2 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 0 1 0 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 4 1 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 1 0 0 0 0 6
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 0 1 0 3 1 0 5
Baylor Genetics 2 1 1 0 0 0 4
Institute of Human Genetics,University of Goettingen 2 2 0 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 3 1 0 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 0 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 0 1 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 1 2 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
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
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
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 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: 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
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Genetic Outpatient Clinic,Children's Memorial Health Institute 0 1 0 0 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

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