ClinVar Miner

Variants studied for Sanfilippo syndrome type A

Included ClinVar conditions (1):
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
59 47 151 118 29 341

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SGSH 49 45 148 113 29 324
SGSH, SLC26A11 3 2 3 5 0 10
GNPTAB 6 0 0 0 0 6
CARD14, SGSH 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 38 8 35 114 16 211
Illumina Clinical Services Laboratory,Illumina 2 1 72 1 14 90
Counsyl 6 31 25 0 1 63
Natera, Inc. 9 1 28 11 10 59
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 3 9 2 0 0 14
OMIM 13 0 0 0 0 13
Integrated Genetics/Laboratory Corporation of America 8 5 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
GeneReviews 6 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 1 0 0 0 6
Baylor Genetics 4 0 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 3 0 0 0 0 3
Myriad Women's Health, Inc. 3 0 0 0 0 3
Undiagnosed Diseases Network,NIH 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Center for Medical Genetics,GenVams Trust 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 1

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