Variants studied for Werner syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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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