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
609 538 354 372 69 513 1566

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Phenylketonuria 599 521 278 354 38 8 1420
not provided 138 42 47 15 54 512 618
not specified 0 0 62 10 15 0 86
PAH-related disorder 42 7 6 4 2 0 61
Inborn genetic diseases 27 2 15 11 0 0 55
Hyperphenylalaninemia 23 0 1 0 0 0 23
See cases 7 4 2 0 0 0 13
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 9 1 0 0 0 0 10
Intellectual disability 0 0 1 2 0 0 3
Pulmonary hypertension, primary, 1 3 0 0 0 0 0 3
Mild non-PKU hyperphenylalanemia 2 0 0 0 0 0 2
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 2 0 0 0 0 0 2
Malignant tumor of breast 1 0 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 1
Mild hyperphenylalaninemia 1 0 0 0 0 0 1
Pituitary hormone deficiency, combined, 2 1 0 0 0 0 0 1
Propionic acidemia 0 1 0 0 0 0 1
RASopathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 104
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 416 67 62 338 27 0 910
ClinGen PAH Variant Curation Expert Panel 292 262 153 4 17 0 728
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE 0 0 0 0 0 512 512
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 181 33 58 5 7 0 284
Baylor Genetics 196 75 1 0 0 0 272
Counsyl 44 112 59 7 0 0 222
GeneDx 97 24 12 9 48 0 190
Natera, Inc. 114 4 28 4 10 0 160
Eurofins Ntd Llc (ga) 73 2 20 1 9 0 105
Fulgent Genetics, Fulgent Genetics 61 14 8 2 4 0 89
Quest Diagnostics Nichols Institute San Juan Capistrano 51 6 11 3 4 0 75
PreventionGenetics, part of Exact Sciences 42 7 6 7 9 0 71
CeGaT Center for Human Genetics Tuebingen 55 5 5 2 2 0 69
Revvity Omics, Revvity 51 8 5 0 0 0 64
OMIM 61 0 0 0 0 0 61
Illumina Laboratory Services, Illumina 19 3 23 8 6 0 59
Ambry Genetics 27 2 15 11 0 0 55
Juno Genomics, Hangzhou Juno Genomics, Inc 45 6 3 0 0 0 54
Inserm U 954, Faculté de Médecine de Nancy 0 39 0 4 0 1 44
Myriad Genetics, Inc. 19 22 0 0 0 0 41
Breakthrough Genomics, Breakthrough Genomics 0 0 2 3 33 0 38
Mayo Clinic Laboratories, Mayo Clinic 33 2 0 0 0 0 35
Genome Diagnostics Laboratory, University Medical Center Utrecht 26 0 0 0 4 0 30
3billion 27 2 1 0 0 0 30
Genome-Nilou Lab 10 6 4 2 4 0 26
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 19 4 0 0 0 0 23
Department of Pathology and Laboratory Medicine, Sinai Health System 16 2 4 0 1 0 23
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 13 4 1 0 3 0 21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 17 1 0 0 0 0 18
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 14 3 1 0 0 0 18
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 17 1 0 0 0 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 15 1 1 0 0 0 17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 10 1 0 0 3 0 14
Pars Genome Lab 0 1 0 0 13 0 14
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 8 3 2 0 0 0 13
Mendelics 8 1 1 0 2 0 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 10 1 0 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 6 4 0 0 0 0 10
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 8 1 1 0 0 0 10
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 6 2 1 0 0 0 9
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 6 0 1 1 0 0 8
Center for Molecular Medicine, Children’s Hospital of Fudan University 8 0 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 6 1 1 0 0 0 8
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 8 0 0 0 0 0 8
Centogene AG - the Rare Disease Company 4 2 1 0 0 0 7
GeneReviews 0 0 0 0 0 7 7
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 7 0 0 0 0 0 7
New York Genome Center 3 3 0 0 0 0 6
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
Genetics and Molecular Pathology, SA Pathology 5 0 0 0 0 0 5
Institute of Human Genetics, University Hospital Muenster 3 1 1 0 0 0 5
MGZ Medical Genetics Center 2 2 0 0 0 0 4
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 1 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 4
CSER _CC_NCGL, University of Washington 0 0 1 2 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 2 0 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 0 0 0 0 3
Clinical Laboratory, Xuzhou Maternity and Child Health Care Hospital 2 1 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 3 0 0 0 0 0 3
Beijing Obstetrics and Gynecology Hospital, Capital Medical University 1 2 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 1 0 3
Institute of Immunology and Genetics Kaiserslautern 3 0 0 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 3 0 0 0 0 0 3
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 2 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 1 1 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Gansu Provincial Maternity and Child Care Hospital 0 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 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 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 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
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
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
NxGen MDx 0 1 0 0 0 0 1
H3Africa Consortium 0 0 0 0 1 0 1
Molecular Genetics Laboratory, Mashhad University of Medical Sciences 0 0 1 0 0 0 1
Medical Laboratory Sciences, Applied Medical Sciences, Jordan University of Science and Technology 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Rare Disease Research and Therapeutics Development Group, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade 1 0 0 0 0 0 1

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