ClinVar Miner

Variants studied for Mucopolysaccharidosis type 7

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 other total
62 36 167 334 26 1 589

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 other total
GUSB 57 33 161 313 24 1 555
GUSB, LOC126860055 4 3 6 21 2 0 33
ASL, GUSB 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Labcorp Genetics (formerly Invitae), Labcorp 46 13 108 324 22 1 514
Illumina Laboratory Services, Illumina 1 0 32 6 9 0 48
Revvity Omics, Revvity 2 3 20 0 0 0 25
OMIM 16 0 0 0 0 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 7 0 0 0 0 12
Fulgent Genetics, Fulgent Genetics 2 3 5 2 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 4 2 1 0 0 8
Genome-Nilou Lab 0 0 0 0 4 0 4
Mendelics 0 0 3 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 1 1 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 1 0 0 0 0 2
3billion 0 0 0 2 0 0 2
Institute of Medical Genetics, Medical University of Vienna 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1

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