ClinVar Miner

Variants studied for GNPTAB-mucolipidosis

Included ClinVar conditions (5):
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
263 206 469 768 69 98 1673

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GNPTAB 238 170 324 735 59 84 1447
GNPTG 24 32 107 26 6 14 177
GNPTG, LOC130058158 0 4 33 7 0 0 39
GNPTG, UNKL 0 0 4 0 1 0 5
GNPTAB, LOC130008555 0 0 1 0 2 0 3
​intergenic 1 0 0 0 0 0 1
GNPTAB, LOC124646390 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 48
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 200 39 177 713 46 0 1175
Natera, Inc. 28 6 161 35 23 0 253
Illumina Laboratory Services, Illumina 0 0 128 17 23 0 168
GeneReviews 39 0 0 0 0 98 134
Counsyl 19 41 47 0 0 0 107
Myriad Genetics, Inc. 2 72 1 0 0 0 75
Genome-Nilou Lab 7 3 22 16 14 0 62
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 31 1 1 0 0 34
Fulgent Genetics, Fulgent Genetics 5 4 17 6 0 0 32
OMIM 23 0 0 0 0 0 23
Baylor Genetics 5 0 5 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 2 0 0 0 0 8
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 6 2 0 0 0 0 8
3billion 4 1 1 0 0 0 6
Mendelics 2 2 0 1 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 1 0 0 0 5
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center 0 5 0 0 0 0 5
Revvity Omics, Revvity 2 1 1 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 0 2 0 0 0 4
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 2 1 0 0 0 0 3
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 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.