ClinVar Miner

Variants studied for Sanfilippo syndrome type B

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
28 54 49 4 6 126

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NAGLU 28 54 49 4 6 126

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 9 44 35 1 0 89
OMIM 14 0 0 0 0 14
Invitae 2 0 5 1 3 11
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 4 3 0 0 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 4 1 1 0 0 6
Illumina Clinical Services Laboratory,Illumina 3 1 2 0 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 1 3 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 0 2 1 5
Integrated Genetics/Laboratory Corporation of America 4 0 0 0 0 4
Fulgent Genetics 0 1 2 0 0 3
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 2 0 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 2
Ege University Pediatric Genetics,Ege University 0 0 2 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 1 1 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 1 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1

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