ClinVar Miner

Variants in gene PCNT

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
43 9 334 213 105 1 598

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 118 167 94 0 352
Microcephalic Osteodysplastic Primordial Dwarfism 0 0 125 44 30 0 199
Microcephalic osteodysplastic primordial dwarfism type 2 33 3 66 7 17 1 125
not provided 8 6 71 6 10 0 101
Inborn genetic diseases 4 0 0 0 0 0 4
Global developmental delay 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genetic Services Laboratory, University of Chicago 17 2 165 84 85 0 353
Illumina Clinical Services Laboratory,Illumina 0 0 129 44 30 0 203
GeneDx 7 1 18 87 49 0 162
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 1 53 13 29 0 98
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 5 17 0 22
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 5 15 0 20
Fulgent Genetics 0 0 18 0 0 0 18
OMIM 12 0 0 0 0 0 12
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 10 0 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 6 0 0 6
Ambry Genetics 4 0 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 2 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 2 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 2 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
The Genetics Institute,Rambam Health Care Campus 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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