ClinVar Miner

Variants in gene IDS

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 affects not provided total
291 183 132 159 32 6 3 696

Condition and significance breakdown #

Total conditions: 10
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Mucopolysaccharidosis, MPS-II 288 180 82 147 26 6 3 643
not provided 18 6 31 11 8 0 0 71
Inborn genetic diseases 2 5 21 9 5 0 0 42
not specified 0 0 16 2 1 0 0 19
Mucopolysaccharidosis, MPS-III-A 1 0 5 8 0 0 0 14
IDS-related disorder 0 2 2 5 0 0 0 9
Mucopolysaccharidosis type 2, severe form 2 0 0 0 0 0 0 2
Epidermolysis bullosa simplex with nail dystrophy 0 0 1 0 0 0 0 1
Mucopolysaccharidosis, type II, mild form 1 0 0 0 0 0 0 1
See cases 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 230 144 6 0 0 0 0 380
Labcorp Genetics (formerly Invitae), Labcorp 50 6 64 138 25 0 0 283
Ambry Genetics 2 5 21 9 5 0 0 42
GeneDx 5 3 18 2 6 0 0 34
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 23 8 1 0 0 0 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 5 15 0 0 0 0 31
Revvity Omics, Revvity 7 9 9 0 0 0 0 25
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 25 0 0 0 0 0 0 25
Genome-Nilou Lab 14 3 1 3 1 0 0 22
Natera, Inc. 1 0 5 13 1 0 0 20
Eurofins Ntd Llc (ga) 12 2 4 2 0 0 0 20
IIFP, CONICET-UNLP 14 0 0 0 0 0 0 14
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 8 0 0 0 6 0 14
CeGaT Center for Human Genetics Tuebingen 2 0 3 8 0 0 0 13
OMIM 10 0 0 0 0 0 0 10
PreventionGenetics, part of Exact Sciences 0 2 2 5 0 0 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 8 1 0 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 4 0 3 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 2 0 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 1 1 1 2 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 0 3 0 0 0 0 5
Myriad Genetics, Inc. 0 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 0 2 2
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 1 0 0 0 1 0 0 2
MOLECULAR BIOLOGY LABORATORY, INSTITUTO NACIONAL DE PEDIATRIA 1 1 0 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 1 0 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 0 1
Counsyl 1 0 0 0 0 0 0 1
Mendelics 0 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 0 1
Department of Molecular Biology and Genetics, Acibadem University 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir 1 0 0 0 0 0 0 1
3billion 0 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 1 0 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.