ClinVar Miner

Variants in gene ANKRD11

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
519 230 1550 1193 277 26 3365

Condition and significance breakdown #

Total conditions: 48
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KBG syndrome 328 157 910 701 234 5 2250
not provided 212 49 397 432 151 1 1168
Inborn genetic diseases 75 4 368 381 41 0 869
ANKRD11-related disorder 15 11 47 117 19 0 209
not specified 4 0 70 61 34 0 165
Intellectual disability 12 5 8 12 0 0 37
Global developmental delay 13 3 1 0 0 0 17
See cases 3 3 3 0 0 0 9
Neurodevelopmental disorder 3 3 0 0 0 0 6
Rare genetic intellectual disability 3 3 0 0 0 0 6
Gastric cancer 0 0 0 0 0 4 4
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Developmental disorder 2 0 0 1 0 0 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
Abnormality of the nervous system 0 2 0 0 0 0 2
Autism spectrum disorder 0 0 0 2 0 0 2
Cervical cancer 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Astigmatism; Epicanthus; Cryptorchidism; Hypertelorism; Esotropia; Global developmental delay; Retrognathia; Hypermetropia; Wide nasal bridge; Intellectual disability 1 0 0 0 0 0 1
Chromatinopathy 0 1 0 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Decreased total neutrophil count; Neurodevelopmental abnormality 0 1 0 0 0 0 1
Dystonia, early-onset, and/or spastic paraplegia 0 0 1 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Epilepsy 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; Seizure; Abnormal facial shape; Conductive hearing impairment; Delayed speech and language development 1 0 0 0 0 0 1
Global developmental delay; Seizure; Atypical behavior; Macrocephaly; Hand tremor 0 0 1 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Moderate intellectual deficiency 0 1 0 0 0 0 1
Monogenic short statue 1 0 0 0 0 0 1
Multiple congenital anomalies/dysmorphic syndrome 0 0 0 1 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Obesity 0 0 0 1 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Sarcoma 0 0 0 0 0 1 1
Seizure 0 0 1 0 0 0 1
Sudden unexplained death in childhood 1 0 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1
Vascular disorder 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 157
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 117 6 788 692 203 0 1806
Ambry Genetics 75 4 368 381 41 0 869
GeneDx 177 22 307 182 136 0 824
CeGaT Center for Human Genetics Tuebingen 34 6 63 257 20 0 380
PreventionGenetics, part of Exact Sciences 15 11 47 117 19 0 209
Genome-Nilou Lab 0 0 0 0 113 0 113
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 61 28 2 0 96
Breakthrough Genomics, Breakthrough Genomics 0 0 5 40 39 0 84
Athena Diagnostics 0 0 10 12 38 0 60
Baylor Genetics 25 1 22 0 0 0 48
3billion 22 15 2 4 0 0 43
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 19 3 16 5 0 0 43
Revvity Omics, Revvity 4 8 29 0 0 0 41
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 20 11 0 0 0 36
Genetic Services Laboratory, University of Chicago 4 2 6 10 8 0 30
Fulgent Genetics, Fulgent Genetics 4 1 13 9 1 0 28
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 19 1 1 3 2 0 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 5 8 11 0 25
Autoinflammatory diseases unit, CHU de Montpellier 19 5 0 0 0 0 24
Institute of Human Genetics, University of Leipzig Medical Center 19 4 2 0 0 0 24
New York Genome Center 2 0 22 0 0 0 24
Genome Medicine, Institute for Basic Research in Developmental Disabilities 15 5 1 0 0 0 21
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 18 2 1 0 0 0 21
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 18 3 0 21
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 20 20
Variantyx, Inc. 16 4 0 0 0 0 20
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 7 1 1 10 0 0 19
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 10 7 0 0 0 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 12 4 0 0 16
Institute for Human Genetics, University Hospital Essen 13 3 0 0 0 0 16
Diagnostic Laboratory, Strasbourg University Hospital 10 1 4 0 0 0 15
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 13 2 0 0 0 0 15
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia 13 1 0 0 0 0 14
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 11 1 0 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 6 4 0 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 4 5 2 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 11 0 0 12
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 6 4 1 0 11
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 0 0 3 4 0 11
MGZ Medical Genetics Center 4 5 2 0 0 0 11
Institute of Human Genetics Munich, TUM University Hospital 9 1 0 0 0 0 10
Clinical Genetics Laboratory, Skane University Hospital Lund 6 3 0 0 0 0 9
Department of Human Genetics, Hannover Medical School 2 7 0 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 1 2 0 0 0 9
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 5 4 0 0 0 0 9
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 5 0 0 3 0 0 8
Molecular Genetics Lab, CHRU Brest 2 6 0 0 0 0 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 4 3 0 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 6 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 3 2 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 5 2 0 0 0 0 7
Service de Génétique Moléculaire, Hôpital Robert Debré 3 4 0 0 0 0 7
The Purple Gene Clinic, Mumbai 1 6 0 0 0 0 7
Blueprint Genetics 2 2 2 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 3 2 0 6
Genetics and Molecular Pathology, SA Pathology 2 2 1 1 0 0 6
GenomeConnect - Simons Searchlight 5 0 1 0 0 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 2 0 4 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 2 0 4 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 0 1 0 0 0 5
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 2 1 0 0 0 5
Clinical Genetics and Genomics, Karolinska University Hospital 2 3 0 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 5 0 0 0 0 0 5
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 4 1 0 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 5
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 0 2 0 0 0 5
MVZ Martinsried, Medicover Genetics 3 1 1 0 0 0 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 4 1 0 0 0 0 5
OMIM 4 0 1 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 5
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 4 0 0 0 0 0 4
Center of Human Genetics, Hôpital Erasme 3 1 0 0 0 0 4
Centre of Medical Genetics, University Hospital Muenster 0 2 2 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 3 0 1 0 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 2 1 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 3 0 1 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 4 0 0 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 3 0 1 0 0 0 4
Illumina Laboratory Services, Illumina 3 1 0 0 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 1 1 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 0 0 1 0 0 4
Laboratoire de Génétique Moléculaire, CHU Bordeaux 3 1 0 0 0 0 4
MVZ Medizinische Genetik Mainz 1 3 0 0 0 0 4
Mendelics 0 1 2 0 1 0 4
Molecular Genetics Laboratory, Motol Hospital 4 0 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 2 0 0 0 4
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 2 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 1 0 0 0 3
Department of Medical Genetics, National Institute of Health 2 0 1 0 0 0 3
Eurofins Ntd Llc (ga) 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 1 0 0 3
Genomics England Pilot Project, Genomics England 3 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 0 0 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 3 0 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 2 1 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 0 0 0 0 3
Laboratory of Medical Genetics, University of Torino 2 1 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 2 1 0 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 0 0 0 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 0 2 0 0 0 0 2
Dasa 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Genetics Department, Catlab 1 1 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 2 0 0 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 2 0 0 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 1 1 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Key Laboratory of Endocrinology, Affiliated Hospital of Jining Medical University 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 1 0 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 1 0 0 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 1 0 0 0 0 1
Robert's Program, Boston Children's Hospital 1 0 0 0 0 0 1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 1 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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