ClinVar Miner

Variants studied for Mucopolysaccharidosis type 7

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 other total
27 5 65 35 18 1 140

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 other total
GUSB 26 5 65 35 18 1 139
ASL, GUSB 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Invitae 9 0 29 29 16 1 84
Illumina Clinical Services Laboratory,Illumina 1 0 32 6 9 0 48
OMIM 16 0 0 0 0 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 0 0 4
Mendelics 0 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 1 1 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 1 1 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 0 0 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 1
Laboratorio de Genética, Hospital Universitario Clinico San Cecilio 0 1 0 0 0 0 1

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