ClinVar Miner

Variants in gene LRP2

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 total
18 10 225 72 51 327

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Donnai Barrow syndrome 17 2 174 40 24 256
not specified 0 0 18 49 44 80
not provided 1 6 46 7 2 62
Inborn genetic diseases 0 0 6 0 0 6
Retinal dystrophy 0 2 0 0 0 2
Ductal breast carcinoma 0 0 1 0 0 1
Pituitary prolactin cell adenoma; Severe Myopia 0 1 0 0 0 1
Premature ovarian failure 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 169 39 23 231
Genetic Services Laboratory, University of Chicago 0 1 29 44 3 77
PreventionGenetics 0 0 0 5 38 43
GeneDx 1 5 10 2 0 18
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 8 1 2 12
GeneReviews 12 0 0 0 0 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 4 6 2 12
OMIM 10 0 0 0 0 10
Gharavi Laboratory,Columbia University 0 0 9 0 0 9
Ambry Genetics 0 0 6 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 2 3
Fulgent Genetics 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 1 3
Baylor Miraca Genetics Laboratories, 0 0 2 0 0 2
Institute of Human Genetics,Cologne University 2 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
NIHR Bioresource Rare Diseases,University of Cambridge 0 2 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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.