ClinVar Miner

Variants in gene PCNT

Minimum submission review status: Collection method:
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Gene type:
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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 10 339 249 158 1 659

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 0 117 167 94 0 351
not provided 8 6 78 54 92 0 223
Microcephalic Osteodysplastic Primordial Dwarfism 0 0 125 44 30 0 199
Microcephalic osteodysplastic primordial dwarfism type 2 33 4 67 14 26 1 141
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: 27
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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 93 75 0 194
Invitae 0 0 0 43 56 0 99
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,Fulgent Genetics 0 0 18 0 0 0 18
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 7 9 0 17
OMIM 12 0 0 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 9 0 0 0 11
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
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 Genetics 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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