ClinVar Miner

Variants studied for Hyperphosphatasia with intellectual disability syndrome 4

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
28 12 8 0 2 41

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
PGAP3 28 12 7 2 40
SETD5 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance benign total
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 9 0 0 0 9
OMIM 7 0 0 0 7
Revvity Omics, Revvity 4 2 1 0 7
3billion 3 1 1 0 5
Baylor Genetics 1 1 2 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 1 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 2
Genome-Nilou Lab 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 1
Human Genetics Section, Sidra Medicine 1 0 0 0 1
New York Genome Center 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 1

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