ClinVar Miner

Variants studied for Mucopolysaccharidosis, MPS-III-B

Coded as:
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 total
52 85 113 22 13 238

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NAGLU 45 73 93 22 13 202
LOC130060903, NAGLU 7 12 20 0 0 36

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 9 44 35 1 0 89
Natera, Inc. 18 2 26 16 12 74
Illumina Laboratory Services, Illumina 3 1 35 2 4 45
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 29 10 0 0 0 39
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 7 6 1 0 0 14
OMIM 14 0 0 0 0 14
3billion 4 2 1 1 0 8
Baylor Genetics 3 0 5 0 0 8
Myriad Genetics, Inc. 0 7 1 0 0 8
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 4 3 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 1 3 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 1 0 0 6
Mendelics 4 2 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 2 1 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 0 0 0 0 5
New York Genome Center 0 0 5 0 0 5
Genome-Nilou Lab 0 0 1 0 3 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 2
Ege University Pediatric Genetics, Ege University 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 1 1 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1
DASA 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1

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