ClinVar Miner

Variants in gene LRP2

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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
116 119 2172 2676 386 87 5090

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 99 51 1427 2544 375 0 4376
Donnai-Barrow syndrome 21 64 906 219 118 20 1246
Inborn genetic diseases 1 0 519 58 1 0 579
LRP2-related disorder 0 3 32 107 22 0 164
not specified 0 0 40 62 72 0 129
Intellectual disability 0 1 2 15 2 0 20
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 16 16
Ovarian serous cystadenocarcinoma 0 0 0 0 0 13 13
Lung cancer 0 0 0 0 0 11 11
Uterine corpus endometrial carcinoma 0 0 0 0 0 9 9
Familial cancer of breast 0 0 0 0 0 7 7
Gastric cancer 0 0 0 0 0 6 6
Papillary renal cell carcinoma type 1 0 0 0 0 0 5 5
Acute myeloid leukemia 0 0 0 0 0 4 4
Cervical cancer 0 0 0 0 0 4 4
Clear cell carcinoma of kidney 0 0 0 0 0 4 4
DSD incomplete virilization 0 2 0 2 0 0 4
Hearing impairment 2 2 0 0 0 0 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Melanoma 0 0 0 0 0 4 4
Hearing loss and Retinal dystrophy 0 0 2 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Retinal dystrophy 0 2 0 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Breast ductal adenocarcinoma 0 0 1 0 0 0 1
Cardiac, facial, and digital anomalies with developmental delay 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Congenital heart disease 0 0 1 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Non-syndromic syndactyly 0 1 0 0 0 0 1
Premature ovarian failure 0 0 0 0 1 0 1
Prolactin-producing pituitary gland adenoma; High myopia 0 1 0 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Stickler syndrome 0 1 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 96 40 1279 2425 205 0 4045
Fulgent Genetics, Fulgent Genetics 3 44 662 137 15 0 861
Ambry Genetics 1 0 519 58 1 0 579
GeneDx 3 9 182 70 219 0 483
Illumina Laboratory Services, Illumina 0 0 237 46 85 0 368
Breakthrough Genomics, Breakthrough Genomics 0 0 24 61 127 0 212
PreventionGenetics, part of Exact Sciences 0 3 32 112 60 0 207
Genome-Nilou Lab 0 0 39 48 106 0 193
CeGaT Center for Human Genetics Tuebingen 1 0 26 105 15 0 147
Genetic Services Laboratory, University of Chicago 1 2 29 45 4 0 81
Mayo Clinic Laboratories, Mayo Clinic 0 0 11 10 50 0 71
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 67 67
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 4 23 9 6 0 44
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 26 7 1 0 34
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 5 18 0 25
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 4 17 3 0 24
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 3 18 0 23
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 4 16 0 0 20
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 15 0 0 17
New York Genome Center 0 0 17 0 0 0 17
Revvity Omics, Revvity 0 1 16 0 0 0 17
Baylor Genetics 0 0 12 1 0 0 13
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 4 6 2 0 12
Eurofins Ntd Llc (ga) 0 1 8 1 2 0 12
GeneReviews 0 0 0 0 0 12 12
Daryl Scott Lab, Baylor College of Medicine 0 1 9 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 6 2 0 0 10
OMIM 10 0 0 0 0 0 10
Gharavi Laboratory, Columbia University 0 0 9 0 0 0 9
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 6 2 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 0 8 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 1 0 6
National Institute on Deafness and Communication Disorders, National Institutes of Health 2 2 2 0 0 0 6
Yale Center for Mendelian Genomics, Yale University 0 6 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 1 0 0 0 4
Ulrich Schweizer laboratory, Universitaetsklinikum Bonn 0 2 0 2 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 0 0 2 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 2 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 2 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
3billion 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Institute of Experimental Medicine, Department of Genetics, Istanbul University 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
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Myriad Genetics, Inc. 0 1 0 0 0 0 1
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Otogenetics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1

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