ClinVar Miner

Variants in gene LTBP2

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
14 11 194 70 58 1 287

Condition and significance breakdown #

Total conditions: 18
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Glaucoma 3, primary congenital, d 6 0 175 15 11 0 207
Weill-Marchesani syndrome 0 0 158 14 31 0 203
not provided 2 3 6 41 45 0 97
Weill-Marchesani syndrome 3 1 0 8 0 0 0 9
Microspherophakia 6 0 1 0 0 0 7
not specified 0 0 0 1 7 0 7
Primary open angle glaucoma 0 4 2 0 0 0 6
Primary congenital glaucoma 0 0 4 0 0 0 4
Pseudoexfoliation glaucoma 0 3 2 0 0 0 4
Microspherophakia; Glaucoma 3, primary congenital, d; Weill-Marchesani syndrome 3 0 0 3 0 0 0 3
Glaucoma 3, primary infantile, b 0 0 2 0 0 0 2
LTBP2-related Disorder 0 0 1 0 0 1 2
Marfan syndrome 1 0 1 0 0 0 2
Ectopia lentis, isolated, autosomal dominant 0 0 0 0 1 0 1
Glaucoma 3, primary congenital, A 1 0 0 0 0 0 1
Glaucoma of childhood 0 1 0 0 0 0 1
LTBP2-Related Disorders 0 0 1 0 0 0 1
Weill-Marchesani syndrome 1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 179 29 31 0 205
Invitae 1 1 0 40 42 0 84
Elahi Laboratory, University of Tehran 3 7 4 0 1 0 15
OMIM 12 0 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 8
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 4 0 3 0 7
PreventionGenetics, PreventionGenetics 0 0 0 1 5 0 6
GeneDx 0 1 1 0 3 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.