ClinVar Miner

Variants in gene LRP4

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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
14 5 271 121 45 1 411

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Myasthenic syndrome, congenital, 17 1 1 149 71 26 0 247
Cenani-Lenz syndactyly syndrome 9 1 124 18 22 0 174
not provided 0 1 32 40 1 0 74
not specified 0 0 2 5 5 0 12
Myasthenic syndrome, congenital, 17 2 0 1 0 0 0 3
Bone Mineral Density Variation 0 0 2 0 0 0 2
Isolated hand syndactyly 0 2 0 0 0 0 2
Sclerosteosis 2 2 0 0 0 0 0 2
LRP4-Related Disorder 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 1 148 101 27 0 278
Illumina Clinical Services Laboratory,Illumina 0 0 124 18 22 0 164
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 21 4 4 0 29
OMIM 12 0 0 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 4 0 0 8
GeneDx 0 1 5 1 0 0 7
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 1 0 1 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 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

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