ClinVar Miner

Variants in gene GNPTG

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
86 55 262 440 17 15 802

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 75 17 188 431 14 1 718
GNPTG-mucolipidosis 28 43 108 26 6 14 190
Inborn genetic diseases 0 0 31 2 0 0 33
GNPTG-related disorder 0 0 0 10 2 0 12
not specified 0 0 6 3 1 0 10
Retinal dystrophy 2 0 2 0 0 0 4
Mucolipidosis 0 2 0 0 0 0 2
Rod-cone dystrophy 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 39
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 73 16 184 422 12 0 707
Natera, Inc. 5 1 65 12 6 0 89
Counsyl 3 15 19 0 0 0 37
Ambry Genetics 0 0 31 2 0 0 33
Illumina Laboratory Services, Illumina 0 0 27 4 1 0 32
Genome-Nilou Lab 6 2 8 12 3 0 31
Fulgent Genetics, Fulgent Genetics 2 13 3 1 0 0 19
GeneReviews 3 0 0 0 0 14 17
PreventionGenetics, part of Exact Sciences 0 0 0 12 2 0 14
GeneDx 3 1 1 6 2 0 13
Breakthrough Genomics, Breakthrough Genomics 0 0 2 4 5 0 11
OMIM 9 0 0 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 3 0 0 9
CeGaT Center for Human Genetics Tuebingen 2 0 2 4 1 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 5 1 0 0 8
Myriad Genetics, Inc. 0 6 1 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 1 3 0 0 0 5
Revvity Omics, Revvity 2 1 1 0 0 0 4
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 4 0 0 0 0 4
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 2 0 2 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 1 0 0 0 3
Clinical Genetics, Academic Medical Center 1 0 0 1 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 2 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Eurofins Ntd Llc (ga) 2 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 0 0 0 0 2
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 1 1 0 0 0 0 2
3billion 2 0 0 0 0 0 2
Mendelics 1 0 0 0 0 0 1
SNPedia 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Suma Genomics 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.