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
48 80 114 21 13 232

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 42 69 94 21 13 198
LOC130060903, NAGLU 6 11 20 0 0 34

Submitter and significance breakdown #

Total submitters: 36
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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 37 2 4 47
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 27 7 0 0 0 34
OMIM 14 0 0 0 0 14
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 6 1 0 0 12
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
Mendelics 4 2 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 1 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 1 3 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 4 0 0 4
Genome-Nilou Lab 0 0 1 0 3 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 3
3billion 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 3
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 0 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 1 1 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 1
DASA 1 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 1

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