ClinVar Miner

Variants studied for X-linked dominant hypophosphatemic rickets

Included ClinVar conditions (1):
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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
158 35 25 8 17 238

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
PHEX 101 17 17 5 10 146
PHEX, PTCHD1 57 18 8 3 7 92
CBLL2, PHEX, PTCHD1 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Institute of Human Genetics, Klinikum rechts der Isar 108 1 1 0 0 110
Mendelics 36 19 1 0 0 56
Illumina Clinical Services Laboratory,Illumina 1 0 19 8 17 45
OMIM 11 0 0 0 0 11
Integrated Genetics/Laboratory Corporation of America 0 7 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 2 2 0 0 6
Baylor Genetics 2 1 0 0 0 3
Fulgent Genetics,Fulgent Genetics 3 0 0 0 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 3 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 1 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 2
MNM Diagnostics 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 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
Breda Genetics srl 0 1 0 0 0 1

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