ClinVar Miner

Variants studied for Propionic acidemia

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
367 427 859 1262 60 22 2714

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PCCA 193 226 464 673 41 6 1457
PCCB 168 199 386 585 19 16 1236
GGACT, PCCA 5 0 8 2 0 0 15
LOC130010061, PCCA 0 0 0 2 0 0 2
BIVM, BIVM-ERCC5, CLYBL, ERCC5, FGF14, GGACT, ITGBL1, LRTM3, METTL21C, NALCN, PCCA, POGLUT2, SLC10A2, TEX30, TM9SF2, TMTC4, TPP2, UBAC2, ZIC2, ZIC5 0 0 1 0 0 0 1
LOC112163638, LOC124946329, PCCA 0 1 0 0 0 0 1
LOC124946329, PCCA 1 0 0 0 0 0 1
PAH 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 294 121 595 1239 48 0 2297
Natera, Inc. 57 119 198 23 16 0 413
Baylor Genetics 68 121 3 0 0 0 192
Counsyl 11 61 43 9 0 0 124
Fulgent Genetics, Fulgent Genetics 31 65 15 6 0 0 117
Illumina Laboratory Services, Illumina 2 1 85 6 6 0 100
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 51 35 0 0 0 0 86
Revvity Omics, Revvity 13 12 24 0 0 0 49
Myriad Genetics, Inc. 2 32 1 0 0 0 35
3billion 11 7 12 1 0 0 31
Laboratory of Metabolic Disorders, Peking University First Hospital 12 17 0 0 0 0 29
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 26 0 0 0 2 0 28
GeneReviews 1 0 0 0 0 20 21
Genome-Nilou Lab 0 0 13 1 6 0 20
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 9 4 3 0 0 0 16
OMIM 15 0 0 0 0 0 15
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 6 4 2 0 0 14
Mendelics 11 0 2 0 1 0 14
Neuberg Centre For Genomic Medicine, NCGM 3 2 9 0 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 3 3 6 0 13
Pars Genome Lab 0 0 0 1 8 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 3 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 1 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 1 0 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 3 0 0 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 2 1 0 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Dasa 2 0 0 0 0 0 2
Department of Genetics, Sultan Qaboos University Hospital 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Ege University Pediatric Genetics, Ege University 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Hunan Provincial Maternal and Child Health Care Hospital 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
New York Genome Center 1 1 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Pediatric Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1 0 0 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 0 0 0 1 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Neonatal Intensive Care Unit, Jiangxi Provincial Children's Hospital 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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