ClinVar Miner

Variants in gene KANSL1

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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
56 26 339 449 300 1 1054

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Koolen-de Vries syndrome 32 12 298 261 78 0 673
not provided 23 10 32 110 239 1 407
not specified 0 0 5 147 29 0 181
Syndromic intellectual disability 0 0 8 1 2 0 11
Inborn genetic diseases 3 3 3 0 0 0 9
Intellectual disability 3 0 1 2 0 0 6
See cases 0 1 1 0 2 0 4
Chromatinopathy 1 0 0 0 0 0 1
Developmental disorder 0 0 0 1 0 0 1
Dysplastic corpus callosum 0 1 0 0 0 0 1
Global developmental delay 1 0 0 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
Premature ovarian failure 0 0 0 0 1 0 1
Seizure 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 1 282 263 79 0 633
GeneDx 20 3 21 219 127 0 389
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory,Cincinnati Children's Hospital Medical Center 0 0 0 1 129 0 130
Athena Diagnostics Inc 0 0 1 3 18 0 22
CeGaT Center for Human Genetics Tuebingen 2 1 7 4 1 0 15
Illumina Laboratory Services,Illumina 0 0 9 1 2 0 12
Ambry Genetics 3 3 3 0 0 0 9
Baylor Genetics 2 2 4 0 0 0 8
Mendelics 2 1 3 2 0 0 8
OMIM 6 0 0 0 0 0 6
GeneReviews 6 0 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 4 1 0 6
Eurofins NTD LLC (GA) 0 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Diagnostic Laboratory, Strasbourg University Hospital 3 0 1 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
3billion 1 2 1 0 0 0 4
PerkinElmer Genomics 0 3 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 3 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Mayo Clinic Laboratories,Mayo Clinic 0 1 1 0 0 0 2
ISCA site 7 0 0 0 0 2 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 2 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 1 1 0 0 0 0 2
Pediatric Genetics Clinic,Sheba Medical Center 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Diagnostics Division,CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 0 1 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 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 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Autoinflammatory diseases unit,CHU de Montpellier 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd,Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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