ClinVar Miner

Variants studied for KBG 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 not provided total
54 11 16 2 0 2 84

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
ANKRD11 51 11 16 2 2 81
ANKRD11, LOC105371414 1 0 0 0 0 1
ANKRD11, TRAPPC2L 1 0 0 0 0 1
KAT6B 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Invitae 12 0 12 0 0 24
Baylor Genetics 12 1 0 0 0 13
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 4 0 0 0 6
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 4 1 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 5
OMIM 4 0 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 4 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 0 0 0 4
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 3 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 1 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 2 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 2 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1

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