ClinVar Miner

Variants studied for Schwartz-Jampel syndrome type 1

Included ClinVar conditions (4):
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
12 17 363 50 116 2 546

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 not provided total
HSPG2 11 15 309 43 101 2 467
HSPG2, LDLRAD2 1 2 39 7 13 0 62
HSPG2, LOC126805655 0 0 15 0 2 0 17

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 321 43 100 0 464
Genome-Nilou Lab 0 0 0 0 51 0 51
Fulgent Genetics, Fulgent Genetics 1 0 21 7 1 0 30
OMIM 7 0 0 0 0 0 7
Baylor Genetics 0 1 5 0 0 0 6
Mendelics 1 1 0 2 1 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 5 0 0 0 5
3billion 0 1 3 1 0 0 5
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 3
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 2 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 0 2
Applied Translational Genetics Group, University of Auckland 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 2 0 0 0 0 2
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 0 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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