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
269 255 144 48 24 536 809

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 109 15 24 24 14 535 587
Phenylketonuria 241 249 121 21 11 4 528
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
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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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 0 535 535
Counsyl 64 123 62 7 0 0 256
ClinGen PAH Variant Curation Expert Panel 112 79 51 3 7 0 252
Invitae 123 15 10 23 13 0 184
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 78 2 20 1 9 0 110
GeneDx 69 10 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
Quest Diagnostics Nichols Institute San Juan Capistrano 30 3 6 1 3 0 43
Illumina Clinical Services Laboratory,Illumina 20 3 9 8 2 0 42
Fulgent Genetics,Fulgent Genetics 30 8 1 0 0 0 39
Baylor Genetics 20 2 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
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
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
Division of Human Genetics,Children's Hospital of Philadelphia 3 2 0 0 0 0 5
Ambry Genetics 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 1 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 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 0 0 1 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 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
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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