ClinVar Miner

Variants in gene PC

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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 not provided total
76 103 294 947 51 2 1357

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Pyruvate carboxylase deficiency 72 95 234 902 43 2 1277
not provided 2 9 53 55 8 0 126
not specified 0 0 7 34 18 0 58
Inborn genetic diseases 0 0 42 2 0 0 44
PC-related condition 0 0 1 28 2 0 31
Congenital lactic acidosis 2 0 0 0 0 0 2
Global developmental delay 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 58 15 137 890 42 0 1142
GeneDx 2 9 41 74 24 0 150
Illumina Laboratory Services, Illumina 0 0 71 9 6 0 86
Ambry Genetics 0 0 42 2 0 0 44
Myriad Genetics, Inc. 0 38 0 0 0 0 38
Baylor Genetics 3 26 7 0 0 0 36
PreventionGenetics, part of Exact Sciences 0 0 1 28 2 0 31
Counsyl 1 5 15 1 0 0 22
CeGaT Center for Human Genetics Tuebingen 0 0 4 15 0 0 19
Fulgent Genetics, Fulgent Genetics 0 1 10 2 1 0 14
Revvity Omics, Revvity 1 1 10 0 0 0 12
OMIM 9 0 0 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 3 2 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 2 4 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 5 0 0 0 6
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 6 0 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 4 0 0 0 4
Gharavi Laboratory, Columbia University 0 0 4 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
Genetic Services Laboratory, University of Chicago 1 0 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 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
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 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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