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
46 20 239 381 291 1 876

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Koolen-de Vries syndrome 24 6 204 184 65 0 477
not provided 21 10 27 107 237 1 396
not specified 0 0 1 147 29 0 177
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 0 0 0 4 0 4
Chromatinopathy 1 0 0 0 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
Seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 1 192 186 66 0 451
GeneDx 18 3 16 218 125 0 379
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 Praxis fuer Humangenetik Tuebingen 2 1 7 3 0 0 13
Illumina Clinical Services Laboratory,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
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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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
Mendelics 0 0 0 2 1 0 3
SIB Swiss Institute of Bioinformatics 3 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 0 0 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
ISCA site 8 0 0 0 0 2 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 2
Human Genetics - Radboudumc,Radboudumc 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 1 1 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 1 0 0 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
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 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
New York Genome Center 0 0 1 0 0 0 1

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