ClinVar Miner

Variants studied for Wiskott-Aldrich syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
38 23 9 9 27 104

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
WAS 38 23 9 3 3 74
WRN 0 0 0 6 23 29
LOC126860342, WRN 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 1 0 9 27 38
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 9 0 0 0 21
OMIM 15 0 0 0 0 15
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 2 2 4 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 3 1 1 0 0 5
San Raffaele Telethon Institute for Gene Therapy, San Raffaele Hospital 4 0 0 0 0 4
3billion, Medical Genetics 0 3 1 0 0 4
Baylor Genetics 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Neil Romberg Laboratory, Children's Hospital of Philadelphia 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 1
MAGIC Laboratory, Stellenbosch University 0 1 0 0 0 1
Unidad de Medicina Traslacional, Hospital de Ninos Ricardo Gutierrez 0 1 0 0 0 1

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