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
47 76 114 21 13 228

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 65 94 21 13 195
LOC130060903, NAGLU 5 11 20 0 0 33

Submitter and significance breakdown #

Total submitters: 33
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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 26 5 0 0 0 31
OMIM 14 0 0 0 0 14
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 6 1 0 0 11
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
New York Genome Center 0 0 4 0 0 4
Genome-Nilou Lab 0 0 1 0 3 4
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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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
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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 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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