ClinVar Miner

Variants in gene combination IDS, LOC106050102

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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 affects not provided total
278 164 93 175 49 7 2 654

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Mucopolysaccharidosis, MPS-II 267 160 67 150 39 7 2 618
not provided 12 7 17 18 13 0 0 62
Inborn genetic diseases 4 1 12 14 9 0 0 40
Mucopolysaccharidosis, MPS-III-A 0 0 5 18 6 0 0 29
not specified 0 0 6 3 7 0 0 16
IDS-related disorder 0 0 3 7 3 0 0 13
History of neurodevelopmental disorder 0 0 1 0 0 0 0 1
Mucopolysaccharidosis, type II, mild form 1 0 0 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 233 129 7 0 0 0 0 369
Labcorp Genetics (formerly Invitae), Labcorp 31 19 50 144 37 0 0 281
Ambry Genetics 4 1 13 14 9 0 0 41
GeneDx 5 4 11 6 11 0 0 37
Natera, Inc. 0 0 5 23 8 0 0 36
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 13 7 1 0 0 0 0 21
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 19 0 0 0 0 0 0 19
IIFP, CONICET-UNLP 16 0 0 0 1 0 0 17
PreventionGenetics, part of Exact Sciences 0 0 3 7 4 0 0 14
Genome-Nilou Lab 6 3 2 1 2 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 5 2 2 0 0 13
Eurofins Ntd Llc (ga) 7 1 2 0 3 0 0 13
Revvity Omics, Revvity 3 5 4 0 0 0 0 12
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 3 2 0 0 0 0 10
CeGaT Center for Human Genetics Tuebingen 0 1 1 8 0 0 0 10
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 3 0 0 0 7 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 4 4 0 0 9
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 7 0 0 8
Clinical Genetics, Academic Medical Center 1 0 0 1 5 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 1 4 0 0 7
MOLECULAR BIOLOGY LABORATORY, INSTITUTO NACIONAL DE PEDIATRIA 5 2 0 0 0 0 0 7
OMIM 6 0 0 0 0 0 0 6
Myriad Genetics, Inc. 0 6 0 0 0 0 0 6
Mendelics 2 1 1 0 1 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 3 1 0 0 0 0 5
MGZ Medical Genetics Center 3 0 1 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 3 0 1 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 1 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 0 3
Baylor Genetics 0 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 0 2
GeneReviews 0 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 1 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 2 0 0 2
3billion 1 0 1 0 0 0 0 2
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 2 0 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 1
Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 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 0 1
Molecular Genetic Laboratory, Kuwait Medical Genetic Center 0 0 0 0 1 0 0 1
DASA 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 0 1

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