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
602 507 312 349 39 9 1441

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PAH 568 479 286 335 38 8 1357
LOC126861615, PAH 34 27 22 13 1 1 78
ASCL1, PAH 0 0 1 1 0 0 2
PI4KA 0 0 2 0 0 0 2
COL1A1 0 1 0 0 0 0 1
POMGNT1, TSPAN1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 81
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 412 76 63 331 28 0 910
ClinGen PAH Variant Curation Expert Panel 308 247 185 4 17 0 761
Baylor Genetics 190 65 1 0 0 0 256
Counsyl 47 115 61 7 0 0 230
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 156 23 0 0 0 0 179
Natera, Inc. 120 5 29 4 10 0 168
Fulgent Genetics, Fulgent Genetics 66 14 8 3 4 0 95
Revvity Omics, Revvity 52 8 5 0 0 0 65
Illumina Laboratory Services, Illumina 20 3 28 8 6 0 65
OMIM 49 0 0 0 0 0 49
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 1 49
Myriad Genetics, Inc. 21 23 0 0 0 0 44
3billion 26 2 1 0 0 0 29
Genome-Nilou Lab 11 6 4 2 4 0 27
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 20 5 0 0 0 0 25
Pars Genome Lab 0 1 0 0 13 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 11 0 0 0 2 0 13
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 12 1 0 0 0 0 13
Mendelics 8 1 1 0 2 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 0 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
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 9 0 0 0 0 0 9
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 6 2 1 0 0 0 9
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
Centogene AG - the Rare Disease Company 4 2 1 0 0 0 7
GeneReviews 0 0 0 0 0 7 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 1 0 0 2 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 1 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 1 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 6 0 0 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4 2 0 0 0 0 6
New York Genome Center 3 3 0 0 0 0 6
MGZ Medical Genetics Center 3 2 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 1 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
Neuberg Centre For Genomic Medicine, NCGM 3 1 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 1 0 0 0 4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 4 0 0 0 0 0 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 1 0 0 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
Clinical Laboratory, Xuzhou Maternity and Child Health Care Hospital 2 1 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Beijing Obstetrics and Gynecology Hospital, Capital Medical University 1 2 0 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 1 1 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 0 2 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
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 0 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 0 1 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
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 1 0 2
Gansu Provincial Maternity and Child Care Hospital 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 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, Amsterdam University Medical Center 1 0 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
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
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
NxGen MDx 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Alibakhshi Medical Genetics Laboratory, Kermanshah University of Medical Sciences 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Mashhad University of Medical Sciences 0 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1

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