ClinVar Miner

Variants in gene WRN

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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
53 16 476 152 41 46 704

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Werner syndrome 51 12 463 142 31 1 679
not specified 0 0 0 17 21 44 58
not provided 2 2 23 0 0 1 28
See cases 0 0 1 1 0 0 2
Diabetes mellitus type 2; Short stature; Cataract; Convex nasal ridge; Mask-like facies; Decreased body weight 0 1 0 0 0 0 1
Medulloblastoma 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 42 9 412 128 24 0 615
Illumina Clinical Services Laboratory,Illumina 1 2 61 14 6 0 84
ITMI 0 0 0 0 0 44 44
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 22 6 7 0 37
PreventionGenetics 0 0 0 0 16 0 16
Genetic Services Laboratory, University of Chicago 0 0 0 11 1 0 12
OMIM 10 0 0 0 0 0 10
Fulgent Genetics 0 0 10 0 0 0 10
GeneReviews 6 0 1 0 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 1 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 0 0 1 1 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
SNPedia 0 0 0 0 0 1 1
Center for Individualized Medicine,Mayo Clinic 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 1 0 0 0 0 1

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