ClinVar Miner

Variants in gene HSPG2

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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
52 38 1336 1012 343 2 2472

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 39 19 999 971 330 0 2181
Lethal Kniest-like syndrome 5 5 291 35 101 0 435
Schwartz-Jampel syndrome 2 7 285 37 100 0 427
Inborn genetic diseases 0 0 266 24 0 0 290
not specified 0 0 49 37 66 0 141
Connective tissue disorder 0 0 32 29 27 0 88
HSPG2-related condition 0 0 14 61 13 0 88
Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1 1 0 17 7 1 2 28
Schwartz-Jampel syndrome type 1 7 7 10 0 5 0 28
Lethal Kniest-like syndrome; Schwartz-Jampel syndrome 0 1 7 0 0 0 8
Microcephaly 0 0 3 0 0 0 3
Abnormal facial shape 0 1 1 0 0 0 2
HSPG2-realted disorder 0 0 2 0 0 0 2
See cases 0 0 0 2 0 0 2
Childhood-onset schizophrenia 0 1 0 0 0 0 1
HSPG2-Related Disorders 0 0 1 0 0 0 1
Qualitative or quantitative defects of perlecan 0 0 1 0 0 0 1
Reduced muscle fiber perlecan 0 0 1 0 0 0 1
Stuve-Wiedemann syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 28 9 701 781 180 0 1699
GeneDx 3 1 94 139 220 0 457
Illumina Laboratory Services, Illumina 0 0 275 36 85 0 396
Revvity Omics, Revvity 8 5 298 1 0 0 312
Ambry Genetics 0 0 266 24 0 0 290
Athena Diagnostics Inc 1 1 152 40 78 0 272
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 69 72 71 0 213
Eurofins Ntd Llc (ga) 1 0 70 17 23 0 111
CeGaT Center for Human Genetics Tuebingen 2 1 9 71 10 0 93
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 32 29 27 0 88
PreventionGenetics, part of Exact Sciences 0 0 14 61 13 0 88
Genome-Nilou Lab 0 0 0 0 46 0 46
Fulgent Genetics, Fulgent Genetics 1 0 20 7 1 0 29
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 19 0 0 21
Baylor Genetics 0 1 13 0 0 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 11 1 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 7 4 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 2 0 0 10
OMIM 9 0 0 0 0 0 9
Gharavi Laboratory, Columbia University 0 0 7 0 0 0 7
Mendelics 1 2 0 2 1 0 6
Blueprint Genetics 0 2 3 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 3 1 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 1 0 5
AiLife Diagnostics, AiLife Diagnostics 0 0 5 0 0 0 5
3billion 1 2 2 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 4 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 2 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 3 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 1 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 2 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 1
Dr. Guy Rouleau's laboratory, McGill University 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
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 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
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 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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