ClinVar Miner

Variants studied for Werner syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
308 211 1998 1240 105 15 3735

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
WRN 307 211 1946 1210 102 15 3650
LOC126860342, WRN 0 0 49 30 3 0 81
LOC130000177, WRN 0 0 2 0 0 0 2
LOC130000177, PURG, WRN 0 0 1 0 0 0 1
PTPN11 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 285 104 1909 1223 87 0 3608
Baylor Genetics 31 96 21 0 0 0 148
Illumina Laboratory Services, Illumina 1 3 89 13 18 0 124
Fulgent Genetics, Fulgent Genetics 12 24 78 0 1 0 115
Genome-Nilou Lab 0 0 0 0 39 0 39
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 33 0 33
Revvity Omics, Revvity 4 3 18 0 0 0 25
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 7 2 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 5 0 0 0 0 11
OMIM 10 0 0 0 0 0 10
Mendelics 1 1 2 1 3 0 8
GeneReviews 0 0 0 0 0 7 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 1 1 1 0 6
3billion 2 1 0 2 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 1 1 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 1 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 0 0 1
Clinical Genetics Unit, University Hospital Principe de Asturias 1 0 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1

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