ClinVar Miner

Variants studied for Phosphoenolpyruvate carboxykinase deficiency, cytosolic

Coded as:
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
6 2 53 10 18 83

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PCK1 6 2 53 10 18 83

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 51 8 17 76
Genome-Nilou Lab 0 0 0 0 7 7
OMIM 3 0 0 0 0 3
Fatma Al Jasmi Lab, United Arab Emirates University 3 0 0 0 0 3
Revvity Omics, Revvity Omics 0 0 2 0 0 2
Mendelics 1 0 0 0 1 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
3billion 0 0 1 0 0 1

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