ClinVar Miner

Variants in gene PORCN

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
38 23 68 40 28 1 181

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 21 10 43 29 25 0 121
Focal dermal hypoplasia 18 12 7 0 1 0 38
Inborn genetic diseases 4 0 14 9 3 0 30
PORCN-related disorder 3 1 5 2 1 0 12
See cases 0 0 0 0 3 0 3
not specified 0 0 0 1 2 0 3
Focal dermal hypoplasia; Anophthalmia-microphthalmia syndrome 0 0 0 0 0 1 1
Global developmental delay 1 0 0 0 0 0 1
History of neurodevelopmental disorder 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 11 3 24 21 17 0 76
GeneDx 12 5 10 2 8 0 37
Ambry Genetics 4 0 14 10 3 0 31
CeGaT Center for Human Genetics Tuebingen 0 1 7 7 0 0 15
PreventionGenetics, part of Exact Sciences 3 1 5 2 1 0 12
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 7 0 7
Eurofins Ntd Llc (ga) 1 0 3 0 2 0 6
OMIM 5 0 0 0 0 0 5
Baylor Genetics 2 0 1 0 0 0 3
Institute for Human Genetics, University Medical Center Freiburg 1 0 1 0 0 0 2
Revvity Omics, Revvity 2 0 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 1 0 1 0 0 0 2
ISCA site 2 0 0 0 0 2 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 2
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Department of Pediatrics, Division of Pediatric Genetics, Necmettin Erbakan University Faculty of Medicine 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
ISCA Site 6 0 0 0 0 1 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Department of Human Genetics, University Hospital Bern, Inselspital 0 1 0 0 0 0 1

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