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 not provided total
20 14 384 245 141 3 668

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Donnai-Barrow syndrome 17 4 268 51 87 3 423
not provided 4 7 119 153 88 0 347
not specified 0 0 18 49 45 0 81
Intellectual disability 0 1 2 15 0 0 18
Inborn genetic diseases 0 0 5 1 0 0 6
Global developmental delay 0 0 2 0 0 0 2
Retinal dystrophy 0 2 0 0 0 0 2
Ductal breast carcinoma 0 0 1 0 0 0 1
Premature ovarian failure 0 0 0 0 1 0 1
Prolactin-producing pituitary gland adenoma; Severe Myopia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 254 49 87 0 390
Invitae 2 0 59 144 88 0 293
Genetic Services Laboratory, University of Chicago 0 1 29 44 3 0 77
PreventionGenetics, PreventionGenetics 0 0 0 5 38 0 43
GeneDx 2 6 10 2 0 0 20
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 15 0 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 13 2 0 0 15
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 8 1 2 0 12
GeneReviews 12 0 0 0 0 0 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 4 6 2 0 12
OMIM 10 0 0 0 0 0 10
Baylor Genetics 0 0 9 1 0 0 10
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 8 1 1 0 10
Gharavi Laboratory,Columbia University 0 0 9 0 0 0 9
Ambry Genetics 0 0 5 1 0 0 6
New York Genome Center 0 0 5 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 2 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 1 0 3
Institute of Human Genetics,Cologne University 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Daryl Scott Lab,Baylor College of Medicine 0 1 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 2 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1

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