ClinVar Miner

Variants in gene PCCB

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
82 59 130 120 25 1 356

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Propionic acidemia 74 57 119 93 9 1 303
not provided 18 3 14 20 11 0 66
not specified 1 0 3 25 8 0 35
Global developmental delay; Hyperammonemia 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 47 10 45 90 7 0 199
Counsyl 6 37 25 6 0 0 74
Illumina Clinical Services Laboratory,Illumina 1 0 49 2 2 0 54
GeneDx 7 2 2 31 6 0 48
Natera, Inc. 9 2 10 11 2 0 34
Integrated Genetics/Laboratory Corporation of America 17 1 2 1 2 0 23
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 12 0 7 0 4 0 23
GeneReviews 13 0 0 0 2 0 15
Laboratory of Metabolic Disorders,Peking University First Hospital 3 8 0 0 0 0 11
OMIM 9 0 0 0 0 0 9
Mendelics 7 0 1 0 1 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 5 1 0 0 9
Baylor Genetics 6 0 2 0 0 0 8
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 6 0 0 0 0 0 6
PreventionGenetics, PreventionGenetics 0 0 0 1 4 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 2 2 0 0 0 5
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 3 0 0 0 4
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 0 4
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 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare 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
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
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1

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