ClinVar Miner

Variants studied for Koolen de Vries syndrome

Included ClinVar conditions (1):
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 total
28 6 205 133 46 413

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KANSL1 24 6 204 133 45 407
KANSL1, MAPT, STH 1 0 1 0 0 2
​intergenic 1 0 0 0 0 1
ARL17B, KANSL1, LOC112533643, LRRC37A 1 0 0 0 0 1
CRHR1, KANSL1, MAPT, SPPL2C, STH 1 0 0 0 0 1
KANSL1, MAPT 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 1 193 132 44 377
Baylor Genetics 2 2 4 0 0 8
GeneReviews 7 0 0 0 0 7
OMIM 6 0 0 0 0 6
Mendelics 0 0 0 2 2 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 4
SIB Swiss Institute of Bioinformatics 3 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla",Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 1

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