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
62 29 99 38 58 254

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mucopolysaccharidosis, MPS-IV-A 46 22 71 17 27 169
not provided 19 5 23 19 42 108
not specified 0 0 2 5 24 30
Morquio syndrome 12 4 7 0 0 23
Inborn genetic diseases 2 1 2 0 0 5
Blepharophimosis; Ptosis; Abnormality of the dentition; Abnormality of the atrial septum 1 0 0 0 0 1
Inborn errors of metabolism 1 0 0 0 0 1
See cases 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 22 8 18 23 17 88
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 2 1 1 13 29
Mayo Clinic Genetic Testing 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 2 1 2 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
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
Centogene AG - the Rare Disease Company 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health: 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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