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
100 87 118 22 7 1 301

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
PCCB 46 47 65 9 2 1 153
PCCA 53 39 48 11 5 0 139
GGACT, PCCA 1 0 5 2 0 0 8
LOC112163638, PCCA 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 12 62 44 9 0 0 127
Illumina Clinical Services Laboratory,Illumina 2 1 50 11 0 0 64
Invitae 24 8 28 1 1 0 62
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 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
Mendelics 10 0 2 0 1 0 13
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 1 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 1 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 Genetics 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
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 1

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