ClinVar Miner

Variants in gene PCCA

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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 total
61 50 59 41 36 213

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Propionyl-CoA carboxylase deficiency 50 39 49 12 9 142
not provided 12 10 11 4 23 60
not specified 0 0 1 28 14 41
Propionicacidemia 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 2 4 3 28 28 65
Counsyl 5 25 19 3 0 52
Invitae 8 3 20 2 6 39
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 4 4 0 9 24
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 20 0 0 0 2 22
Illumina Clinical Services Laboratory,Illumina 1 1 13 7 0 22
Laboratory of Metabolic Disorders,Peking University First Hospital 9 9 0 0 0 18
Integrated Genetics/Laboratory Corporation of America 5 0 3 0 4 12
PreventionGenetics 0 0 0 3 8 11
OMIM 6 0 0 0 0 6
GeneReviews 5 0 0 0 1 6
Lineagen Inc. 3 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 1 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 2
Ege University Pediatric Genetics,Ege University 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 2
Baylor Miraca Genetics Laboratories, 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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