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
67 12 8 1 2 88

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 34 5 7 0 0 46
IDS, LOC106050102 33 7 1 1 2 42

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 31 0 0 0 1 32
Invitae 17 1 4 0 0 22
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
Counsyl 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1

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