ClinVar Miner

Variants studied for Phenylketonuria

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
653 598 337 370 41 9 1570

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PAH 613 564 306 356 39 8 1471
LOC126861615, PAH 36 32 26 13 1 1 86
NSUN2 3 0 1 0 0 0 4
ASCL1, PAH 1 0 1 1 0 0 3
PI4KA 0 0 2 0 0 0 2
COL1A1 0 1 0 0 0 0 1
FDXR 0 1 0 0 0 0 1
POMGNT1, TSPAN1 0 0 1 0 0 0 1
SLC7A5 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 100
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 448 74 73 356 28 0 979
ClinGen PAH Variant Curation Expert Panel 321 290 172 4 17 0 804
Natera, Inc. 193 83 52 4 10 0 342
Baylor Genetics 210 76 1 0 0 0 287
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 185 51 0 0 0 0 236
Counsyl 47 115 61 7 0 0 230
Fulgent Genetics, Fulgent Genetics 66 14 8 3 4 0 95
Revvity Omics, Revvity 61 15 4 0 0 0 80
Juno Genomics, Hangzhou Juno Genomics, Inc 46 8 3 0 0 0 57
Illumina Laboratory Services, Illumina 21 3 22 4 6 0 56
Myriad Genetics, Inc. 25 29 0 0 0 0 54
OMIM 49 0 0 0 1 0 50
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 1 49
3billion 33 3 2 0 0 0 38
Genome-Nilou Lab 11 6 4 2 4 0 27
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 25 1 1 0 0 0 27
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 19 2 3 0 1 0 25
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 20 5 0 0 0 0 25
Department of Pathology and Laboratory Medicine, Sinai Health System 15 2 4 0 1 0 22
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 18 1 0 0 0 0 19
Department of Human Genetics, Hannover Medical School 9 7 0 0 0 0 16
Pars Genome Lab 0 1 0 0 13 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 11 0 0 0 2 0 13
Mendelics 8 1 2 0 2 0 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 10 1 0 0 0 0 11
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 8 1 1 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 6 4 0 0 0 0 10
Variantyx, Inc. 8 2 0 0 0 0 10
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 6 2 1 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 6 2 1 0 0 0 9
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 9 0 0 0 0 0 9
Center for Molecular Medicine, Children’s Hospital of Fudan University 8 0 0 0 0 0 8
CENTOGENE GmbH and LLC - Guiding Precision Medicine 4 2 1 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 1 0 0 2 0 7
GeneReviews 0 0 0 0 0 7 7
Hadassah Hebrew University Medical Center 6 1 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 1 0 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4 2 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 6 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 3 0 0 0 0 6
New York Genome Center 3 3 0 0 0 0 6
OLLIN Analises Genomicas, OLLIN 5 1 0 0 0 0 6
Division of Human Genetics, Children's Hospital of Philadelphia 3 2 0 0 0 0 5
First Genomix Gene Laboratory, Genetic Diagnostics Department 3 2 0 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 1 0 0 0 0 5
MGZ Medical Genetics Center 3 2 0 0 0 0 5
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 4 0 0 0 0 0 4
Department of Molecular Genetics, Istishari Arab Hospital 4 0 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 0 0 0 0 4
Institute of Immunology and Genetics Kaiserslautern 4 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 1 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 4
Beijing Obstetrics and Gynecology Hospital, Capital Medical University 1 2 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 0 0 0 0 3
Clinical Laboratory, Xuzhou Maternity and Child Health Care Hospital 2 1 0 0 0 0 3
Dasa 2 1 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 1 0 0 0 3
Intergen Genetics and Rare Diseases Diagnosis Center 2 1 0 0 0 0 3
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 2 1 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 0 0 0 3
Biochemistry Laboratory of CDMU, Chengde Medical University 2 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 0 2 0 0 2
Centre of Medical Genetics, University Hospital Muenster 1 0 1 0 0 0 2
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 1 1 0 0 0 0 2
Gansu Provincial Maternity and Child Care Hospital 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 1 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 1 0 0 1 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 2
Unidade de Bioquimica Genetica, Centro Hospitalar do Porto 0 2 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 2
Alibakhshi Medical Genetics Laboratory, Kermanshah University of Medical Sciences 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 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
Medical Laboratory Sciences, Applied Medical Sciences, Jordan University of Science and Technology 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Mashhad University of Medical Sciences 0 0 1 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Otogenetics 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 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
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1

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