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
36 32 32 0 6 95

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
SGSH 30 30 31 6 86
GNPTAB 6 0 0 0 6
SGSH, SLC26A11 0 2 1 0 3

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance benign total
Counsyl 6 30 24 1 61
Invitae 4 2 7 2 15
OMIM 13 0 0 0 13
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 6 0 0 3 9
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 6 0 0 2 8
Integrated Genetics/Laboratory Corporation of America 5 1 0 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 0 0 0 6
GeneReviews 6 0 0 0 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 5 1 0 0 6
Illumina Clinical Services Laboratory,Illumina 2 1 2 0 5
Fulgent Genetics 3 0 0 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 1

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