ClinVar Miner

Variants studied for Phenylketonuria

Coded as:
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
310 293 180 32 23 3 663

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PAH 309 293 180 32 23 3 662
​intergenic 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ClinGen PAH Variant Curation Expert Panel 160 120 93 4 12 0 389
Invitae 190 27 18 12 13 0 260
Counsyl 47 118 62 7 0 0 234
Integrated Genetics/Laboratory Corporation of America 97 11 0 0 0 0 108
Illumina Clinical Services Laboratory,Illumina 20 3 28 8 6 0 65
OMIM 50 0 0 0 0 0 50
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 1 49
Fulgent Genetics,Fulgent Genetics 30 8 1 0 0 0 39
Baylor Genetics 20 2 0 0 0 0 22
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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 9 0 0 0 0 0 9
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
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
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 0 0 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: University of Minnesota 1 2 0 0 0 0 3
Elsea Laboratory,Baylor College of Medicine 1 1 0 0 0 0 2
Mayo Clinic Genetic Testing 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
CSER _CC_NCGL, University of Washington 0 0 0 2 0 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
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig 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
Core Molecular Diagnostic Lab, McGill University Health Centre 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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