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
185 162 419 564 20 1 1231

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NAGLU 151 139 349 471 20 1 1024
LOC130060903, NAGLU 34 23 69 93 0 0 206
COASY, HSD17B1, MLX, NAGLU, PSMC3IP 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 173 61 341 557 19 0 1151
Counsyl 9 44 35 1 0 0 89
Natera, Inc. 18 2 26 16 12 0 74
Fulgent Genetics, Fulgent Genetics 20 37 8 0 0 0 65
Illumina Laboratory Services, Illumina 4 1 36 2 4 0 47
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 29 8 0 0 0 0 37
OMIM 14 0 0 0 0 0 14
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 6 1 0 0 0 12
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 0 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 0 4
Genome-Nilou Lab 0 0 1 0 3 0 4
3billion, Medical Genetics 3 0 0 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 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
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

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