ClinVar Miner

Variants in gene HSPG2

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
68 63 1716 1280 349 108 3187

Condition and significance breakdown #

Total conditions: 52
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 54 32 1132 1217 334 0 2565
Inborn genetic diseases 0 0 722 54 1 0 777
Lethal Kniest-like syndrome 5 9 286 36 101 0 434
Schwartz-Jampel syndrome 2 7 279 37 100 0 421
not specified 0 0 53 64 89 0 188
HSPG2-related disorder 0 3 17 74 13 0 107
Connective tissue disorder 0 0 32 29 27 0 88
Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1 1 5 52 8 1 2 69
Schwartz-Jampel syndrome type 1 9 11 16 0 5 0 40
Ovarian serous cystadenocarcinoma 0 0 0 0 0 27 27
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 23 23
Malignant tumor of esophagus 0 0 0 0 0 14 14
Uterine corpus endometrial carcinoma 0 0 0 0 0 11 11
Acute myeloid leukemia 0 0 0 0 0 10 10
Gastric cancer 0 0 0 0 0 9 9
Lung cancer 0 0 0 0 0 9 9
Cervical cancer 0 0 0 0 0 8 8
Lethal Kniest-like syndrome; Schwartz-Jampel syndrome 0 1 7 0 0 0 8
Sarcoma 0 0 0 0 0 6 6
Hepatocellular carcinoma 0 0 0 0 0 4 4
Thymoma 0 0 0 0 0 4 4
Familial pancreatic carcinoma 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Microcephaly 0 0 3 0 0 0 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Abnormal facial shape 0 1 1 0 0 0 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
HSPG2-realted disorder 0 0 2 0 0 0 2
Lymphoma 0 0 0 0 0 2 2
Multiple congenital anomalies/dysmorphic syndrome 0 0 0 0 2 0 2
Ovarian cancer 0 0 0 0 0 2 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
See cases 0 0 0 2 0 0 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Autosomal recessive HSPG2-related disorders 1 0 0 0 0 0 1
Childhood-onset schizophrenia 0 1 0 0 0 0 1
Chromosome 1p36 deletion syndrome; Schwartz-Jampel syndrome 0 0 1 0 0 0 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Intellectual disability 0 0 0 1 0 0 1
Neuromuscular disease caused by qualitative or quantitative defects of perlecan 0 0 1 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Reduced muscle fiber perlecan 0 0 1 0 0 0 1
Stuve-Wiedemann syndrome 0 0 1 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 41 16 767 1007 183 0 2014
Ambry Genetics 0 0 722 54 1 0 777
GeneDx 5 3 194 139 220 0 561
Illumina Laboratory Services, Illumina 0 0 268 36 85 0 389
Athena Diagnostics 1 3 184 58 91 0 337
Revvity Omics, Revvity 8 6 299 1 0 0 314
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 76 88 73 0 239
Breakthrough Genomics, Breakthrough Genomics 0 1 22 69 147 0 239
CeGaT Center for Human Genetics Tuebingen 3 2 23 117 10 0 155
Eurofins Ntd Llc (ga) 1 0 70 17 23 0 111
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 106 106
PreventionGenetics, part of Exact Sciences 0 2 17 74 13 0 106
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 32 29 27 0 88
Genome-Nilou Lab 0 0 0 0 46 0 46
Fulgent Genetics, Fulgent Genetics 1 1 33 7 1 0 43
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 31 4 0 0 35
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 9 13 1 0 24
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
Neuberg Centre For Genomic Medicine, NCGM 0 1 7 0 0 0 8
OMIM 8 0 0 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 1 2 0 0 7
Gharavi Laboratory, Columbia University 0 0 7 0 0 0 7
3billion 1 2 2 1 0 0 6
Mendelics 1 2 0 2 1 0 6
AiLife Diagnostics, AiLife Diagnostics 0 0 5 0 0 0 5
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 2 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 2 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 2 0 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 1 2 0 3
Daryl Scott Lab, Baylor College of Medicine 0 1 2 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 0 3 0 3
Variantyx, Inc. 1 2 0 0 0 0 3
Applied Translational Genetics Group, University of Auckland 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 2
Department of Genetics, Sultan Qaboos University Hospital 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 1 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Obstetrics Unit, Tongji Hospital, Huazhong University of Science and Technology 0 1 1 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 1
Dr. Guy Rouleau's laboratory, McGill University 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 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
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 0 1 0 0 0 0 1

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