ClinVar Miner

Variants studied for Familial X-linked hypophosphatemic vitamin D refractory rickets

Coded as:
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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
221 57 36 22 17 343

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 total
PHEX 141 30 22 18 10 215
PHEX, PTCHD1 74 27 14 4 7 122
LOC130068043, PHEX, PTCHD1 4 0 0 0 0 4
CBLL2, PHEX, PTCHD1 2 0 0 0 0 2
CBLL2, LOC126863223, LOC126863224, LOC126863225, LOC126863226, PHEX, PTCHD1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 109 1 1 0 0 111
Mendelics 85 21 1 0 0 107
Illumina Laboratory Services, Illumina 2 0 19 8 17 46
Fulgent Genetics, Fulgent Genetics 6 1 3 15 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 11 0 0 0 14
OMIM 12 0 0 0 0 12
3billion 5 3 2 0 0 10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 8 0 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 2 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 3 2 0 0 5
Revvity Omics, Revvity Omics 1 0 3 0 0 4
Baylor Genetics 2 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 3 0 0 0 0 3
MNM Diagnostics 3 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 1 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Breda Genetics srl 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 1
Unidad De Genómica, Hospital Infantil Universitario Niño Jesús 0 1 0 0 0 1

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