ClinVar Miner

Variants studied for geleophysic dysplasia

Included ClinVar conditions (10):
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
41 22 403 78 110 10 643

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 27 18 259 64 82 1 444
ADAMTSL2 10 4 121 9 20 5 158
FBN1, LOC126862124 0 0 9 2 3 1 13
LTBP3 4 0 4 2 1 3 13
FBN1, LOC130057020 0 0 4 0 1 0 5
FBN1, LOC113939944 0 0 2 1 1 0 4
FBN1, LOC130057019 0 0 2 0 2 0 4
LOC130006027, LTBP3 0 0 1 0 0 0 1
LOC130006032, LTBP3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 167 50 104 0 322
Fulgent Genetics, Fulgent Genetics 13 9 210 21 1 0 254
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 9 7 17 2 1 0 36
OMIM 15 0 0 0 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 6 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
GeneReviews 0 0 0 0 0 5 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Revvity Omics, Revvity 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1 0 0 2
Laboratory of Metabolic Disorders, Peking University First Hospital 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 2 0 0 0 2
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Suma Genomics, Suma Genomics 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Pediatric Department, The First Affiliated Hospital of Guangxi Medical University 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
3billion 0 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 1 0 0 0 1

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