ClinVar Miner

Variants studied for Propionyl-CoA carboxylase deficiency

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
75 67 108 28 13 1 262

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PCCB 37 37 62 14 4 1 141
PCCA 38 29 41 12 9 0 113
GGACT, PCCA 0 0 5 2 0 0 7
LOC112163638, PCCA 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 9 60 44 9 0 0 122
Illumina Clinical Services Laboratory,Illumina 2 1 50 11 0 0 64
Invitae 6 6 15 8 9 0 44
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 26 0 0 0 2 0 28
GeneReviews 18 0 0 0 3 0 21
OMIM 15 0 0 0 0 0 15
Integrated Genetics/Laboratory Corporation of America 14 0 0 0 0 0 14
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 0 0 0 0 0 9
Fulgent Genetics 2 0 2 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 1 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 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
Baylor Miraca Genetics Laboratories, 0 1 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.