ClinVar Miner

Variants studied for Sanfilippo syndrome type C

Included ClinVar conditions (2):
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
52 38 208 112 27 398

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HGSNAT 52 38 206 112 27 396
FNTA, HGSNAT, POMK, POTEA 0 0 1 0 0 1
HGSNAT, POMK 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 40 6 95 99 11 251
Illumina Clinical Services Laboratory,Illumina 0 1 87 12 17 117
Counsyl 8 18 18 0 0 44
Natera, Inc. 6 0 20 6 7 39
OMIM 12 0 0 0 0 12
Myriad Women's Health, Inc. 0 12 0 0 0 12
Undiagnosed Diseases Network,NIH 2 0 2 0 0 4
Mendelics 0 0 1 1 1 3
Fulgent Genetics,Fulgent Genetics 2 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 3
Baylor Genetics 0 0 2 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 1 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 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
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 1 0 0 0 0 1
GENETICS INSTITUTE,National university of Colombia 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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