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
92 71 129 146 43 404

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Propionic acidemia 85 62 118 112 19 335
not provided 12 10 13 22 23 80
not specified 0 0 3 28 14 42

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 36 24 35 116 11 222
GeneDx 2 4 3 28 28 65
Natera, Inc. 1 1 38 5 10 55
Counsyl 6 25 19 3 0 53
Illumina Clinical Services Laboratory,Illumina 1 1 43 3 4 52
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
Integrated Genetics/Laboratory Corporation of America 8 1 5 0 5 19
Laboratory of Metabolic Disorders, Peking University First Hospital 9 9 0 0 0 18
PreventionGenetics, PreventionGenetics 0 0 0 3 8 11
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 8 2 1 0 0 11
OMIM 6 0 0 0 0 6
GeneReviews 5 0 0 0 1 6
Baylor Genetics 0 3 1 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 0 3 4
Mendelics 3 0 1 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 3 1 0 4
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 2 0 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 1 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1
Nilou-Genome Lab 0 0 1 0 0 1

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