ClinVar Miner

Variants in gene PIGN

Minimum submission review status: Collection method:
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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 total
51 40 231 99 27 420

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Multiple congenital anomalies-hypotonia-seizures syndrome 1 44 28 216 76 14 369
not provided 11 12 26 26 10 81
History of neurodevelopmental disorder 0 0 7 10 16 33
not specified 0 0 1 0 12 13
Inborn genetic diseases 1 1 2 0 0 4
Multiple congenital anomalies-hypotonia-seizures syndrome 0 2 0 0 0 2
Abnormality of brain morphology 0 1 0 0 0 1
Neurodevelopmental delay 0 0 1 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 31 18 211 91 11 362
Ambry Genetics 1 1 9 10 16 37
GeneDx 6 8 9 0 5 28
Athena Diagnostics Inc 0 0 8 2 6 16
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 10 12
OMIM 11 0 0 0 0 11
Baylor Genetics 1 3 7 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 2 4 3 1 0 10
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 4 0 0 6
Institute of Human Genetics, Klinikum rechts der Isar 4 1 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 4
Gharavi Laboratory,Columbia University 0 0 4 0 0 4
Mendelics 0 1 0 0 2 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 1 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Clinical genetics,CHU Grenoble-Alpes 2 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 2
Institute of Human Genetics,Cologne University 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Lineagen, Inc 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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