ClinVar Miner

Variants in gene PC

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
35 24 135 237 41 1 419

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Pyruvate carboxylase deficiency 31 15 121 199 32 1 367
not specified 0 0 2 42 19 0 62
not provided 2 10 17 28 5 0 60
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 3 33 197 25 0 270
Illumina Clinical Services Laboratory,Illumina 0 0 73 9 7 0 89
GeneDx 2 10 8 45 20 0 85
Counsyl 1 6 15 1 0 0 23
GeneReviews 11 0 0 0 5 0 16
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
Baylor Genetics 0 0 4 0 0 0 4
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
Fulgent Genetics,Fulgent Genetics 0 1 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 0 1 0 0 2
Mendelics 0 2 0 0 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
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1

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