ClinVar Miner

Variants studied for free sialic acid storage disease, infantile form

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 not provided total
17 20 44 7 22 2 106

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC17A5 17 19 40 7 21 2 100
LOC129996727, SLC17A5 0 0 4 0 0 0 4
LOC132089454, SLC17A5 0 1 0 0 1 0 2

Submitter and significance breakdown #

Total submitters: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 38 6 11 0 55
Genome-Nilou Lab 0 0 1 0 14 0 15
Myriad Genetics, Inc. 0 13 0 0 0 0 13
Fulgent Genetics, Fulgent Genetics 3 1 4 1 0 0 9
OMIM 6 0 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 0 3
Baylor Genetics 1 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Molecular Diagnostic Laboratory, Diagnostic Services, Shared Health Manitoba 1 0 0 0 0 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.