ClinVar Miner

Variants in gene GALNS

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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 total
76 35 117 40 58 294

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mucopolysaccharidosis, MPS-IV-A 63 27 92 21 27 215
not provided 19 5 23 19 42 108
not specified 0 0 2 5 24 30
Morquio syndrome 12 5 7 0 0 24
Inborn genetic diseases 4 1 0 0 0 5
See cases 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 37 12 38 25 17 129
Illumina Clinical Services Laboratory,Illumina 1 3 58 7 18 85
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 15 2 18 0 20 55
GeneDx 6 3 3 1 28 41
Integrated Genetics/Laboratory Corporation of America 12 3 1 1 13 30
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 6 20 28
PreventionGenetics, PreventionGenetics 0 0 0 4 15 19
OMIM 18 0 0 0 0 18
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 7 1 0 0 9
Ambry Genetics 4 1 0 0 0 5
Centogene AG - the Rare Disease Company 4 1 0 0 0 5
Mendelics 1 1 0 0 2 4
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
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 1 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 2
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
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
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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