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
135 56 1143 356 62 46 1673

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Werner syndrome 133 51 1130 306 57 1 1625
not provided 4 5 37 61 9 1 116
not specified 0 0 0 17 21 44 58
See cases 0 0 1 1 0 0 2
Malignant tumor of breast 0 0 0 0 1 0 1
Medulloblastoma 0 1 0 0 0 0 1
Type 2 diabetes mellitus; Short stature; Cataract (disease); Convex nasal ridge; Mask-like facies; Decreased body weight 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 124 46 1049 322 39 0 1580
Illumina Clinical Services Laboratory,Illumina 1 2 101 13 21 0 138
ITMI 0 0 0 0 0 44 44
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 22 6 7 0 37
Baylor Genetics 5 0 13 0 0 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 2 4 12 0 0 0 18
PreventionGenetics, 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
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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 3 2 0 0 6
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 0 0 1
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
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 1 0 0 0 0 1

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