ClinVar Miner

Variants studied for Werner syndrome

Included ClinVar conditions (1):
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 risk factor not provided total
288 163 1954 1175 100 1 10 3581

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 risk factor not provided total
WRN 288 163 1904 1145 97 0 10 3498
LOC126860342, WRN 0 0 47 30 3 0 0 79
LOC130000177, WRN 0 0 2 0 0 0 0 2
LOC130000177, PURG, WRN 0 0 1 0 0 0 0 1
PTPN11 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 273 93 1863 1161 86 0 0 3476
Illumina Laboratory Services, Illumina 1 3 102 13 21 0 0 140
Baylor Genetics 27 73 21 0 0 0 0 121
Genome-Nilou Lab 0 0 0 0 39 0 0 39
Fulgent Genetics, Fulgent Genetics 3 5 26 0 1 0 0 35
Revvity Omics, Revvity 4 2 12 0 0 0 0 18
OMIM 10 0 0 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 3 0 0 0 0 0 7
Mendelics 0 1 2 1 3 0 0 7
GeneReviews 0 0 0 0 0 0 7 7
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 0 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 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 0 1
Clinical Genetics Unit, University Hospital Principe de Asturias 1 0 0 0 0 0 0 1

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