ClinVar Miner

Variants in gene ANKRD11

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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
157 38 97 202 86 2 530

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 91 23 37 96 39 0 282
KBG syndrome 56 11 22 46 42 2 178
Autism spectrum disorder 1 0 32 87 30 0 150
not specified 0 0 6 10 10 0 26
Inborn genetic diseases 21 0 1 0 0 0 22
See cases 3 0 0 0 0 0 3
Abnormality of the nervous system 0 1 0 0 0 0 1
Astigmatism; Epicanthus; Cryptorchidism; Hypertelorism; Esotropia; Global developmental delay; Retrognathia; Hypermetropia; Wide nasal bridge; Intellectual disability 1 0 0 0 0 0 1
Global developmental delay; Ptosis; Clinodactyly of the 5th finger; Conductive hearing impairment; Intellectual disability; Short foot; Short palm; Unilateral cryptorchidism 0 1 0 0 0 0 1
Global developmental delay; Seizures; Abnormal facial shape; Conductive hearing impairment; Delayed speech and language development 1 0 0 0 0 0 1
Global developmental delay; Seizures; Behavioral abnormality; Macrocephalus; Hand tremor 0 0 1 0 0 0 1
Intellectual disability 1 0 0 0 0 0 1
Moderate intellectual deficiency 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 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 17 0 17 117 60 0 211
Ambry Genetics 22 0 33 87 30 0 172
GeneDx 80 15 14 5 6 0 120
Athena Diagnostics Inc 0 0 9 9 31 0 49
CeGaT Praxis fuer Humangenetik Tuebingen 9 3 11 7 0 0 30
Baylor Genetics 12 1 0 0 0 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 11 1 0 13
Genetic Services Laboratory, University of Chicago 2 0 4 3 1 0 10
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 4 0 0 0 0 6
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 4 1 0 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 4 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 0 0 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 2 0 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 1 0 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 1 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 3 0 0 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 2 1 0 0 0 0 3
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,Fulgent Genetics 1 0 1 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 2 0 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
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
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 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, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1

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