ClinVar Miner

Variants in gene MANBA

See also:
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
71 52 224 363 92 1 749

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Beta-D-mannosidosis 69 48 184 319 39 1 625
not provided 6 7 20 36 72 0 137
Inborn genetic diseases 0 0 54 3 0 0 57
MANBA-related disorder 0 4 1 12 4 0 21
not specified 0 0 7 3 7 0 16
Intellectual disability 0 0 0 6 0 0 6
Meniere disease 0 0 4 0 0 0 4
Hearing impairment 0 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 46
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 64 20 148 309 31 0 572
GeneDx 4 3 11 29 63 0 110
Illumina Laboratory Services, Illumina 0 0 36 8 18 0 62
Ambry Genetics 0 0 54 3 0 0 57
Breakthrough Genomics, Breakthrough Genomics 0 0 5 16 34 0 55
Fulgent Genetics, Fulgent Genetics 3 19 8 0 0 0 30
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 9 7 3 3 0 29
PreventionGenetics, part of Exact Sciences 0 4 1 12 4 0 21
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 1 13 0 16
OMIM 9 0 0 0 0 0 9
Eurofins Ntd Llc (ga) 1 0 3 0 4 0 8
CeGaT Center for Human Genetics Tuebingen 0 2 2 2 1 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 6 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Revvity Omics, Revvity 0 2 3 0 0 0 5
Athena Diagnostics 0 0 1 0 3 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 4 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 1 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 2 1 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 1 0 0 4
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 4 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
3billion 0 1 0 2 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 1 1 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.