ClinVar Miner

Variants in gene PAH

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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
406 338 257 105 29 537 1034

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Phenylketonuria 385 331 230 92 25 3 845
not provided 119 17 27 11 4 536 579
not specified 0 0 7 10 13 0 28
Hyperphenylalaninemia, non-pku 19 0 0 0 0 0 19
Inborn genetic diseases 6 0 0 0 0 0 6
BH4-deficient hyperphenylalaninemia A 3 0 0 0 0 0 3
Intellectual disability 0 0 1 2 0 0 3
Mild non-PKU hyperphenylalanemia 2 0 0 0 0 0 2
Hyperphenylalaninaemia 0 0 1 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE 0 0 0 0 0 536 536
ClinGen PAH Variant Curation Expert Panel 217 153 125 4 14 0 513
Invitae 225 33 20 78 13 0 369
Counsyl 47 118 62 7 0 0 234
Integrated Genetics/Laboratory Corporation of America 115 12 3 4 5 0 139
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 78 2 20 1 9 0 110
Natera, Inc. 79 2 20 1 6 0 108
GeneDx 70 10 1 4 1 0 86
Illumina Clinical Services Laboratory,Illumina 20 3 28 8 6 0 65
OMIM 64 0 0 0 0 0 64
Quest Diagnostics Nichols Institute San Juan Capistrano 33 3 8 1 4 0 49
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 1 49
CeGaT Praxis fuer Humangenetik Tuebingen 37 3 2 0 0 0 42
Fulgent Genetics,Fulgent Genetics 30 8 1 0 0 0 39
Baylor Genetics 28 2 0 0 0 0 30
Myriad Women's Health, Inc. 17 5 0 0 0 0 22
Genome Diagnostics Laboratory,University Medical Center Utrecht 11 0 0 0 2 0 13
Mendelics 7 1 1 0 2 0 11
PreventionGenetics, PreventionGenetics 0 0 0 3 7 0 10
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 9 0 0 0 0 0 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 6 0 1 1 0 0 8
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 8 0 0 0 0 0 8
GeneReviews 7 0 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 1 0 0 2 0 7
Ambry Genetics 6 0 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 1 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 4 1 1 0 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 4 2 0 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 1 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 3 0 0 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 3 2 0 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 1 0 0 0 0 5
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 4 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 1 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 2 1 1 0 0 0 4
CSER _CC_NCGL, University of Washington 0 0 1 2 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 2 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 3 0 0 0 3
Clinical Laboratory,Xuzhou Maternity and Child Health Care Hospital 2 1 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
New York Genome Center 1 2 0 0 0 0 3
Beijing Obstetrics and Gynecology Hospital,Capital Medical University 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 2 0 0 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 2 0 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 0 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Unidade de Bioquimica Genetica,Centro Hospitalar do Porto 0 2 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 1 0 0 1 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Medical Genetics Center,Academic Academic Center for Education, Culture and Research (ACECR), Khorasan Razavi 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 1 0 1
Nilou-Genome Lab 0 0 0 0 1 0 1
Alibakhshi Medical Genetics Laboratory,Kermanshah University of Medical Sciences 1 0 0 0 0 0 1

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