ClinVar Miner

Variants in gene GALNS

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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 association not found not provided total
223 240 422 407 91 1 9 1148

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not found not provided total
Mucopolysaccharidosis, MPS-IV-A 214 225 367 363 42 1 9 1020
not provided 28 14 34 50 74 0 0 190
not specified 0 0 50 6 19 0 0 74
Morquio syndrome 41 17 7 0 0 0 0 64
GALNS-related disorder 2 4 2 12 3 0 0 23
Inborn genetic diseases 4 1 16 1 0 0 0 22
Skeletal dysplasia 1 1 0 0 0 0 0 2
Abnormality of metabolism/homeostasis 0 1 0 0 0 0 0 1
Abnormality of the skeletal system 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not found not provided total
Labcorp Genetics (formerly Invitae), Labcorp 154 54 82 353 35 0 0 678
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 65 99 227 0 3 0 0 394
Genome-Nilou Lab 28 32 25 13 26 0 0 124
GeneDx 12 6 7 31 64 0 0 120
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 41 15 48 2 10 0 0 116
Illumina Laboratory Services, Illumina 1 3 55 6 13 0 0 76
Fulgent Genetics, Fulgent Genetics 22 35 7 0 1 0 0 65
Breakthrough Genomics, Breakthrough Genomics 0 0 2 17 43 0 0 62
Eurofins Ntd Llc (ga) 15 2 17 0 16 0 0 50
PreventionGenetics, part of Exact Sciences 2 4 2 16 17 0 0 41
Revvity Omics, Revvity 16 10 14 0 0 0 0 40
Mayo Clinic Laboratories, Mayo Clinic 1 2 9 5 18 0 0 35
Neuberg Centre For Genomic Medicine, NCGM 11 7 11 0 0 0 0 29
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 11 13 2 0 0 0 0 26
Ambry Genetics 4 1 16 1 0 0 0 22
CeGaT Center for Human Genetics Tuebingen 5 4 1 8 4 0 0 22
OMIM 16 0 0 0 0 0 0 16
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 4 1 0 0 0 0 10
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 3 7 0 0 0 0 0 10
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 6 4 0 0 0 0 0 10
GeneReviews 0 0 0 0 0 0 9 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 1 2 0 0 0 0 9
3billion 6 2 1 0 0 0 0 9
Mendelics 3 3 1 0 1 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 3 1 1 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 1 3 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 0 0 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 0 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 1 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 0 0 0 0 0 3
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 1 0 0 1 0 3
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 2 0 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
Dr.Nikuei Genetic Center 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 0 1
Laboratorio De Medicina Genomica, Universidad Icesi 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 0 1

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