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
51 21 463 237 164 1 815

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Microcephalic osteodysplastic primordial dwarfism type II 41 12 318 61 104 1 515
not specified 0 0 116 168 94 0 352
not provided 9 9 82 55 92 0 232
Microcephalic osteodysplastic primordial dwarfism 0 0 5 1 2 0 8
Inborn genetic diseases 4 0 0 0 0 0 4
Microcephaly 0 0 3 0 0 0 3
Aganglionic megacolon 0 0 1 0 0 0 1
Global developmental delay 0 0 1 0 0 0 1
Intellectual disability 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 262 33 96 0 391
Genetic Services Laboratory, University of Chicago 17 2 163 86 85 0 353
GeneDx 7 2 18 93 75 0 195
Invitae 1 1 0 43 56 0 101
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 1 53 13 29 0 98
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 10 27 28 0 65
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 10 3 0 0 15
OMIM 13 0 0 0 0 0 13
Baylor Genetics 4 0 6 0 0 0 10
Cincinnati Children's Hospital Medical Center 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
Service de Génétique Moléculaire,Hôpital Robert Debré 0 3 0 1 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 3 0 0 0 4
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 3 0 0 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 0 3
Functional Genomics Laboratory, Institute of Genome Research 3 0 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 1 0 0 0 0 2
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
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 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
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 0 0 0 0 1

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