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
42 6 7 2 1 2 59

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ANKRD11 40 6 7 2 1 2 57
ANKRD11, LOC105371414 1 0 0 0 0 0 1
KAT6B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 0 4 0 1 0 13
Baylor Miraca Genetics Laboratories, 12 0 0 0 0 0 12
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 4 1 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology 3 1 0 0 0 0 4
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 3 1 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 1 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 1 0 0 0 2
Fulgent Genetics 1 0 1 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 1 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 2 0 0 0 0 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 2 0 0 0 0 0 2
Mendelics 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1

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