ClinVar Miner

Variants in gene LRP4

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Minimum submission review status: Collection method:
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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 18 568 486 106 2 1115

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 8 8 434 423 46 0 908
not provided 1 3 71 54 72 0 196
Cenani-Lenz syndactyly syndrome 9 3 119 18 23 1 172
Inborn genetic diseases 0 0 66 1 0 0 67
LRP4-related condition 0 1 7 33 3 0 44
not specified 0 0 7 5 8 0 20
Congenital myasthenic syndrome 17 2 0 3 0 8 0 11
Sclerosteosis 2 2 0 0 0 8 0 10
Isolated hand syndactyly 0 2 0 0 0 0 2
Abnormality of the musculature 0 1 0 0 0 0 1
Bone Mineral Density Variation 0 0 1 0 0 0 1
LRP4-Related Disorder 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 5 425 423 46 0 907
Illumina Laboratory Services, Illumina 0 0 116 18 20 0 154
Fulgent Genetics, Fulgent Genetics 1 3 102 36 2 0 144
GeneDx 0 2 27 32 71 0 132
Ambry Genetics 0 0 66 1 0 0 67
PreventionGenetics, part of Exact Sciences 0 1 7 33 3 0 44
Eurofins Ntd Llc (ga) 0 0 20 4 4 0 28
CeGaT Center for Human Genetics Tuebingen 0 0 9 16 2 0 27
Revvity Omics, Revvity 1 1 12 0 0 0 14
OMIM 12 0 0 0 0 0 12
Genome-Nilou Lab 0 0 0 0 8 0 8
Genetic Services Laboratory, University of Chicago 0 0 3 0 2 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 3 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 3 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Clinical Genetics, Charité Universitaetsmedizin Berlin 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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