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
254 45 334 173 91 2 790

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHARGE association 157 24 180 63 62 1 445
not provided 106 19 125 5 23 1 276
not specified 1 0 14 88 58 0 135
Hypogonadism with anosmia 0 0 89 38 7 0 134
History of neurodevelopmental disorder 1 0 29 59 29 0 118
Inborn genetic diseases 12 1 8 0 0 0 21
CHARGE association; Kallmann syndrome 5 5 1 13 0 0 0 19
Kallmann syndrome 5 4 2 1 0 1 0 8
Atrial septal defect; Choanal atresia; Abnormal facial shape; Pyloric stenosis 0 1 0 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
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: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 56 4 71 26 54 0 211
GeneDx 91 16 35 31 6 0 179
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 24 0 84 11 36 0 155
Ambry Genetics 13 1 37 59 29 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 0 0 0 31 31 0 62
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 26 4 7 0 8 0 44
Center for Human Genetics, Inc 5 6 5 2 1 0 19
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 0 0 1 13 0 19
OMIM 16 0 1 0 0 0 17
Integrated Genetics/Laboratory Corporation of America 2 0 3 2 9 0 16
SBielas Lab, Department of Human Genetics,University of Michigan 15 0 0 0 0 0 15
Fulgent Genetics 4 1 8 0 0 0 13
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 9 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 2 4 2 0 9
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
Athena Diagnostics Inc 0 0 0 0 6 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 6 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 4 0 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 3 1 0 5
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
Baylor Miraca Genetics Laboratories, 1 1 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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 0 0 0 0 0 2
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
HudsonAlpha Institute for Biotechnology 1 0 1 0 0 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
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
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 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
The Translational Medicine Center of Children Development and Disease,Fudan University 1 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 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 1

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