ClinVar Miner

Variants studied for mucopolysaccharidosis type 3B

Included ClinVar conditions (2):
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
166 130 415 537 20 1 1170

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NAGLU 137 112 345 449 20 1 975
LOC130060903, NAGLU 29 18 69 88 0 0 194
COASY, HSD17B1, MLX, NAGLU, PSMC3IP 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 154 59 338 531 19 0 1101
Counsyl 9 44 35 1 0 0 89
Natera, Inc. 18 2 26 16 12 0 74
Illumina Laboratory Services, Illumina 3 1 37 2 4 0 47
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 26 5 0 0 0 0 31
Fulgent Genetics, Fulgent Genetics 8 1 8 0 0 0 17
OMIM 14 0 0 0 0 0 14
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 6 1 0 0 0 11
Baylor Genetics 3 0 5 0 0 0 8
Myriad Genetics, Inc. 0 7 1 0 0 0 8
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 4 3 0 0 0 7
Mendelics 4 2 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 1 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 1 3 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 2 1 0 5
New York Genome Center 0 0 4 0 0 0 4
Genome-Nilou Lab 0 0 1 0 3 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 0 3
3billion 3 0 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 2 0 0 0 3
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 0 0 2 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 1 1 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 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.