ClinVar Miner

Variants studied for Mucopolysaccharidosis, MPS-IV-A

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 30 103 32 42 259

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GALNS 63 27 92 30 33 230
GALNS, TRAPPC2L 4 3 10 2 1 20
APRT, GALNS 0 0 1 0 8 9

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 41 13 41 23 31 149
Illumina Clinical Services Laboratory,Illumina 1 3 61 9 27 101
OMIM 18 0 0 0 0 18
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 8 1 0 0 10
Centogene AG - the Rare Disease Company 4 1 0 0 0 5
Mendelics 1 2 0 0 2 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 0 0 0 4
Baylor Genetics 2 0 1 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 0 0 0 0 3
GeneReviews 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 2 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 0 2 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 0 0 0 3
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 1

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