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 total
77 16 16 10 39 155

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 total
IDS, LOC106050102 38 11 6 4 25 81
IDS 39 5 10 6 14 74

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 28 3 12 9 38 90
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 31 0 0 0 1 32
OMIM 13 0 0 0 0 13
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 2 6 3 0 0 11
MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA 7 3 0 0 0 10
Integrated Genetics/Laboratory Corporation of America 4 1 0 0 0 5
GeneReviews 4 0 0 0 0 4
Mendelics 0 1 1 0 1 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 0 0 0 3
Research Laboratory of Human Genome and Multifactorial Diseases,Faculty of Pharmacy, University of Monastir 2 0 0 0 0 2
Counsyl 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1

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