ClinVar Miner

Variants studied for Pyruvate carboxylase deficiency

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
84 121 247 956 45 2 1376

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
PC 80 120 243 944 44 2 1354
LOC130006142, PC 1 1 2 12 0 0 16
LOC130006147, PC 0 0 2 0 1 0 3
LRFN4, PC 3 0 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 65 17 146 944 43 0 1215
Illumina Laboratory Services, Illumina 0 0 67 9 7 0 83
Baylor Genetics 4 36 9 0 0 0 49
Myriad Genetics, Inc. 0 39 0 0 0 0 39
Fulgent Genetics, Fulgent Genetics 1 15 10 2 1 0 29
Counsyl 1 6 15 1 0 0 23
Revvity Omics, Revvity 1 1 10 0 0 0 12
OMIM 9 0 0 0 0 0 9
3billion 1 1 4 0 0 0 6
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 6 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 2 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 3 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 0 0 0 4
Mendelics 0 3 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 2 0 0 0 0 2
Variantyx, Inc. 0 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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