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
161 120 244 332 33 1 775

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PCCA 85 62 118 176 23 0 399
PCCB 74 57 119 152 10 1 362
GGACT, PCCA 2 0 7 4 0 0 13
LOC112163638, PCCA 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 85 35 81 313 29 0 543
Counsyl 12 62 44 9 0 0 127
Illumina Clinical Services Laboratory,Illumina 2 1 98 9 6 0 116
Natera, Inc. 10 3 48 16 12 0 89
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 25 2 0 0 0 0 27
GeneReviews 18 0 0 0 3 0 21
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 10 0 2 0 1 0 13
Baylor Genetics 6 3 3 0 0 0 12
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 3 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
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 2 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 1 0 0 3
Nilou-Genome Lab 0 0 2 1 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 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, Oman 1 0 1 0 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 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
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Division of Genetic Medicine, Lausanne University Hospital 0 0 0 0 1 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1

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