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
302 202 1990 1220 100 1 10 3696

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 302 202 1939 1190 97 0 10 3612
LOC126860342, WRN 0 0 48 30 3 0 0 80
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: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 283 101 1891 1204 86 0 0 3565
Baylor Genetics 31 96 21 0 0 0 0 148
Illumina Laboratory Services, Illumina 1 3 102 13 21 0 0 140
Fulgent Genetics, Fulgent Genetics 12 24 78 0 1 0 0 115
Genome-Nilou Lab 0 0 0 0 39 0 0 39
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 6 4 0 0 0 0 0 10
Mendelics 0 1 2 1 3 0 0 7
GeneReviews 0 0 0 0 0 0 7 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 0 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 0 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
3billion, Medical Genetics 0 0 0 2 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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