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
44 14 66 22 33 152

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 19 5 22 6 21 73
Mucopolysaccharidosis, MPS-IV-A 29 7 12 1 11 59
Morquio syndrome 4 1 31 12 3 51
not specified 0 0 3 4 24 30
Inborn genetic diseases 2 1 2 0 0 5
See cases 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 15 2 18 0 20 55
Illumina Clinical Services Laboratory,Illumina 1 3 32 12 3 51
Invitae 8 1 10 1 9 29
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 6 20 28
PreventionGenetics 0 0 0 4 15 19
OMIM 18 0 0 0 0 18
GeneDx 6 3 3 1 4 17
Integrated Genetics/Laboratory Corporation of America 4 1 2 0 6 13
Ambry Genetics 2 1 2 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 1 0 0 0 4
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
Fulgent Genetics 2 0 0 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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