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
198 232 125 27 18 537 741

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 109 12 23 1 4 536 561
Phenylketonuria 168 225 103 21 12 4 446
not specified 0 0 4 7 13 0 22
Hyperphenylalaninemia, non-pku 19 0 0 0 0 0 19
Inborn genetic diseases 4 0 0 0 0 0 4
Mild non-PKU hyperphenylalanemia 2 0 0 0 0 0 2
Hyperphenylalaninaemia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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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
Counsyl 52 123 63 7 0 0 245
ClinGen PAH Variant Curation Expert Panel, 68 49 31 3 7 0 158
Invitae 89 9 9 0 7 0 114
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 78 2 20 1 9 0 110
GeneDx 70 9 1 4 1 0 85
Integrated Genetics/Laboratory Corporation of America 72 7 1 1 4 0 85
OMIM 63 0 0 0 0 0 63
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 1 49
Illumina Clinical Services Laboratory,Illumina 20 3 9 8 2 0 42
Fulgent Genetics 30 8 1 0 0 0 39
Quest Diagnostics Nichols Institute San Juan Capistrano 26 3 5 1 3 0 38
Genome Diagnostics Laboratory,University Medical Center Utrecht 11 0 0 0 2 0 13
PreventionGenetics 0 0 0 3 7 0 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 6 0 1 1 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
Division of Human Genetics,Children's Hospital of Philadelphia 3 2 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 1 0 0 0 0 4
Ambry Genetics 4 0 0 0 0 0 4
Department of Prenatal Diagnosis, Center for Genetic Medicine,Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University 0 4 0 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 0 0 0 0 3
CSER_CC_NCGL; University of Washington Medical Center 0 0 1 2 0 0 3
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
GenomeConnect, ClinGen 0 0 0 0 0 3 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 1 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
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
Mendelics 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

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