ClinVar Miner

Variants in gene TBCK

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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
84 67 353 338 75 2 867

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 58 26 289 329 74 0 765
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 42 45 34 0 2 2 108
Inborn genetic diseases 3 1 77 5 0 0 86
TBCK-related disorder 2 3 5 19 4 0 33
not specified 0 0 3 3 0 0 6
Syndromic Infantile Encephalopathy 0 3 0 0 0 0 3
Abnormality of the nervous system 2 0 0 0 0 0 2
Global developmental delay 1 0 0 0 0 0 1
Global developmental delay; Seizure; Ventral septal defect; Delayed reflexes; Dysmorphism; Hypotonia 0 1 0 0 0 0 1
Intellectual disability 1 0 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 1
See cases 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 51 15 277 327 40 0 710
Ambry Genetics 3 1 77 5 0 0 86
GeneDx 15 5 11 0 39 0 70
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 20 26 12 0 0 0 58
Breakthrough Genomics, Breakthrough Genomics 0 0 4 8 22 0 34
PreventionGenetics, part of Exact Sciences 2 3 5 19 4 0 33
CeGaT Center for Human Genetics Tuebingen 4 0 4 10 0 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 3 3 3 0 0 15
Baylor Genetics 3 1 9 0 0 0 13
Revvity Omics, Revvity 2 1 7 0 0 0 10
OMIM 8 0 0 0 0 0 8
Undiagnosed Diseases Network, NIH 5 2 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 2 1 0 0 0 4
Fulgent Genetics, Fulgent Genetics 1 0 1 0 1 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 0 0 0 0 3
3billion 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Bionano Laboratories 2 0 0 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 0 2
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
TIDEX, University of British Columbia 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Kariminejad - Najmabadi Pathology & Genetics Center 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
ISCA Site 6 0 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1

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