ClinVar Miner

Variants in gene combination PHEX, PTCHD1

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Minimum submission review status: Collection method:
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Gene type:
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 total
243 85 63 39 46 427

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 198 59 47 31 34 349
Familial X-linked hypophosphatemic vitamin D refractory rickets 74 27 14 4 7 122
not specified 0 0 1 4 8 13
Hypophosphatemic rickets 8 2 0 0 0 10
PHEX-related condition 1 0 1 3 0 5
Inborn genetic diseases 0 0 3 0 0 3
Autosomal dominant hypophosphatemic rickets 0 1 0 0 0 1
Bowing of the legs; Hypophosphatemic rickets; Lower limb pain 1 0 0 0 0 1
See cases 1 0 0 0 0 1
Vitamin D-dependent rickets, type 2 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 179 37 40 23 16 295
GeneDx 44 26 3 12 20 105
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 41 1 0 0 0 42
Mendelics 28 11 0 0 0 39
Illumina Laboratory Services, Illumina 1 0 7 3 7 18
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 8 2 0 0 0 10
Athena Diagnostics Inc 5 0 2 0 1 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 0 7 7
PreventionGenetics, part of Exact Sciences 1 0 1 3 1 6
Fulgent Genetics, Fulgent Genetics 2 1 2 1 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 0 0 0 5
CeGaT Center for Human Genetics Tuebingen 5 0 0 0 0 5
Eurofins Ntd Llc (ga) 1 0 3 0 0 4
3billion 2 0 2 0 0 4
OMIM 3 0 0 0 0 3
Ambry Genetics 0 0 3 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 1 0 0 3
Baylor Genetics 1 1 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
Revvity Omics, Revvity 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
DASA 0 1 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 1

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