ClinVar Miner

Variants in gene WRN

See also:
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
71 23 604 247 52 45 948

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 69 19 589 50 11 0 733
not provided 2 2 34 186 41 1 250
not specified 0 0 0 17 21 44 58
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: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 61 15 534 219 34 0 863
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,PreventionGenetics 0 0 0 0 16 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 11 1 0 0 14
Genetic Services Laboratory, University of Chicago 0 0 0 11 1 0 12
OMIM 10 0 0 0 0 0 10
GeneDx 0 0 0 1 9 0 10
Fulgent Genetics,Fulgent Genetics 0 0 10 0 0 0 10
Mendelics 0 1 2 1 3 0 7
GeneReviews 6 0 1 0 0 0 7
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
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 0 0 1 1 0 0 2
SNPedia 0 0 0 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 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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