ClinVar Miner

Variants studied for Propionic acidemia

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
349 382 742 1197 60 22 2500

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 185 202 392 637 41 6 1333
PCCB 158 178 341 554 19 16 1144
GGACT, PCCA 5 0 8 4 0 0 17
LOC130010061, PCCA 0 0 0 2 0 0 2
BIVM, BIVM-ERCC5, CCDC168, CLYBL, ERCC5, FGF14, GGACT, ITGBL1, 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: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 285 117 578 1172 48 0 2200
Baylor Genetics 68 121 3 0 0 0 192
Natera, Inc. 28 7 93 22 16 0 166
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 90 9 6 0 108
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 48 29 0 0 0 0 77
Revvity Omics, Revvity 10 12 20 0 0 0 42
Myriad Genetics, Inc. 1 29 1 0 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
Mendelics 11 0 2 0 1 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 6 4 2 0 0 14
Neuberg Centre For Genomic Medicine, NCGM 3 2 9 0 0 0 14
3billion 5 4 3 1 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 2 3 6 0 12
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 1 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
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 1 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 1 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 0 0 0 0 0 2
New York Genome Center 1 1 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
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
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
Neonatal Intensive Care Unit, Jiangxi Provincial Children's Hospital 0 1 0 0 0 0 1

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