ClinVar Miner

Variants in gene PCCB

Minimum submission review status: Collection method:
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Gene type:
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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
148 156 367 553 42 16 1149

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Propionic acidemia 143 152 341 515 18 16 1071
not provided 21 7 28 47 26 0 121
not specified 1 0 9 21 8 0 38
Inborn genetic diseases 4 0 26 0 0 0 30
PCCB-related condition 1 3 5 13 2 0 24
Global developmental delay; Hyperammonemia 0 0 2 0 0 0 2
Abnormality of metabolism/homeostasis 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 125 58 268 506 16 0 973
GeneDx 10 3 13 58 23 0 107
Baylor Genetics 35 40 2 0 0 0 77
Natera, Inc. 18 3 37 13 4 0 75
Counsyl 6 36 25 6 0 0 73
Illumina Laboratory Services, Illumina 1 0 49 2 2 0 54
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 13 8 4 2 0 48
Ambry Genetics 4 0 26 0 0 0 30
PreventionGenetics, part of Exact Sciences 1 3 5 14 6 0 29
Fulgent Genetics, Fulgent Genetics 11 2 9 2 0 0 24
Eurofins Ntd Llc (ga) 12 0 7 0 4 0 23
Revvity Omics, Revvity 5 4 12 0 0 0 21
CeGaT Center for Human Genetics Tuebingen 5 1 6 5 0 0 17
GeneReviews 1 0 0 0 0 14 15
Laboratory of Metabolic Disorders, Peking University First Hospital 3 8 0 0 0 0 11
Myriad Genetics, Inc. 1 10 0 0 0 0 11
OMIM 9 0 0 0 0 0 9
Mendelics 7 0 1 0 1 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 3 1 0 0 6
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 6 0 0 0 0 0 6
3billion 2 2 2 0 0 0 6
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 2 2 0 0 0 5
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 3 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 0 2 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
Genome-Nilou Lab 0 0 1 0 2 0 3
Athena Diagnostics Inc 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Clinical Genetics, Academic Medical Center 0 0 0 1 1 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
New York Genome Center 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 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
DASA 1 0 0 0 0 0 1

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