ClinVar Miner

Variants in gene SGSH

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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
40 45 87 15 17 176

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mucopolysaccharidosis, MPS-III-A 35 36 40 0 6 100
not provided 16 11 17 4 8 54
Sanfilippo syndrome 6 0 33 5 5 49
not specified 0 0 2 6 11 19
Inborn genetic diseases 2 0 1 0 0 3
Abnormality of carbohydrate metabolism/homeostasis 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 6 28 23 0 1 58
Illumina Clinical Services Laboratory,Illumina 3 1 35 5 5 49
Invitae 16 3 14 0 2 35
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 10 0 10 2 6 28
GeneDx 11 10 0 0 3 24
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 3 1 3 4 8 19
Integrated Genetics/Laboratory Corporation of America 10 1 2 0 4 17
PreventionGenetics,PreventionGenetics 0 0 0 5 9 14
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 3 9 2 0 0 14
OMIM 13 0 0 0 0 13
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 6 0 0 0 3 9
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 6 0 0 0 2 8
Genomic Research Center,Shahid Beheshti University of Medical Sciences 5 1 0 0 0 6
Ambry Genetics 2 0 1 0 0 3
Fulgent Genetics,Fulgent Genetics 3 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 1 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 2 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Center for Medical Genetics,GenVams Trust 1 0 0 0 0 1

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