ClinVar Miner

Variants in gene PHEX

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
307 70 70 21 26 2 463

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 228 55 53 8 18 2 353
Familial X-linked hypophosphatemic vitamin D refractory rickets 101 17 17 5 10 0 146
not specified 0 0 1 9 6 0 15
See cases 2 0 1 0 2 0 5

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 180 39 36 8 17 0 280
GeneDx 69 14 10 8 3 0 104
Institute of Human Genetics, Klinikum rechts der Isar 63 0 1 0 0 0 64
Mendelics 24 9 1 0 0 0 34
Illumina Clinical Services Laboratory,Illumina 1 0 12 5 10 0 28
Athena Diagnostics Inc 12 0 4 0 4 0 20
OMIM 9 0 0 0 0 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 5 1 0 0 7
Integrated Genetics/Laboratory Corporation of America 0 5 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 2 1 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 1 3 0 0 0 0 4
ISCA site 6 1 0 0 0 2 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 3 0 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Seelig Lab,University of Washington 0 0 0 0 0 1 1
Breda Genetics srl 0 1 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 1

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