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
21 17 82 52 26 1 175

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Pyruvate carboxylase deficiency 20 7 68 5 8 1 103
not specified 0 0 2 42 19 0 62
not provided 2 10 16 8 5 0 39

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 2 10 8 45 20 0 85
Illumina Clinical Services Laboratory,Illumina 0 0 38 4 0 0 42
Counsyl 1 5 15 1 0 0 22
Invitae 1 0 15 0 3 0 19
GeneReviews 11 0 0 0 5 0 16
OMIM 9 0 0 0 0 0 9
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 2 4 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 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

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