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
23 21 27 1 6 71

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 total
HGSNAT 23 21 26 1 6 70
HGSNAT, POMK 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 8 18 18 0 0 44
Invitae 5 0 4 1 4 14
OMIM 12 0 0 0 0 12
Fulgent Genetics 2 1 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 1 1 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 1 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 1
NeuroCure Clinial Research Center,Charite Universitaetsmedizin Berlin 1 0 0 0 0 1
GENETICS INSTITUTE,National university of Colombia 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1

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