ClinVar Miner

Variants in gene LRP2

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
19 11 229 182 127 3 457

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Donnai Barrow syndrome 17 2 173 41 24 3 259
not provided 2 7 52 118 88 0 249
not specified 0 0 18 49 44 0 80
Inborn genetic diseases 0 0 6 0 0 0 6
Retinal dystrophy 0 2 0 0 0 0 2
Ductal breast carcinoma 0 0 1 0 0 0 1
Pituitary prolactin cell adenoma; Severe Myopia 0 1 0 0 0 0 1
Premature ovarian failure 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 169 39 23 0 231
Invitae 0 0 0 110 88 0 198
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 12 2 0 0 14
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
Gharavi Laboratory,Columbia University 0 0 9 0 0 0 9
Ambry Genetics 0 0 6 0 0 0 6
Division of Genomic Diagnostics,The 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
Baylor Genetics 0 0 1 1 0 0 2
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
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 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
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

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