ClinVar Miner

Variants studied for Mucopolysaccharidosis, MPS-II

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 affects total
157 47 25 94 53 13 366

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 affects total
IDS 85 24 14 50 19 6 188
IDS, LOC106050102 72 23 11 44 34 7 178

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects total
Invitae 39 7 18 89 52 0 205
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 37 15 2 0 0 0 54
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 44 0 0 0 0 0 44
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 31 0 0 0 1 0 32
Pediatrics,All India Institute of Medical Sciences, New Delhi 0 11 0 0 0 13 24
Natera, Inc. 0 0 0 11 3 0 14
OMIM 13 0 0 0 0 0 13
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 2 6 3 0 0 0 11
MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA 7 3 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 0 0 0 0 6
GeneReviews 4 0 0 0 0 0 4
Mendelics 0 1 1 0 1 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 0 0 0 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 1 0 0 0 0 3
Research Laboratory of Human Genome and Multifactorial Diseases,Faculty of Pharmacy, University of Monastir 2 0 0 0 0 0 2
Nilou-Genome Lab 0 0 0 0 2 0 2
Baylor Genetics 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 0 1
Counsyl 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1

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