ClinVar Miner

Variants studied for Schwartz-Jampel syndrome

Included ClinVar conditions (6):
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
31 27 545 90 180 2 844

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HSPG2 10 14 307 42 101 2 463
LIFR 18 11 185 41 64 0 301
HSPG2, LDLRAD2 1 2 38 7 13 0 61
HSPG2, LOC126805655 0 0 15 0 2 0 17
CCNO-DT, IL6ST 1 0 0 0 0 0 1
IL6ST 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 483 56 140 0 679
Genome-Nilou Lab 0 0 0 0 60 0 60
Natera, Inc. 3 2 17 20 17 0 59
Fulgent Genetics, Fulgent Genetics 2 1 27 9 2 0 41
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 9 18 0 34
OMIM 13 0 0 0 0 0 13
Baylor Genetics 1 1 7 0 0 0 9
Revvity Omics, Revvity 3 2 1 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 1 1 3 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 1 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 2 0 0 0 3
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 3 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 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
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 0 0 0 0 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
New York Genome Center 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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