ClinVar Miner

Variants in gene PXDN

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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
19 6 180 206 113 495

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Anterior segment dysgenesis 7 18 4 58 87 61 228
not provided 1 0 24 101 83 206
Inborn genetic diseases 0 0 119 8 0 127
PXDN-related disorder 0 1 2 21 3 27
not specified 0 0 0 2 17 19
Anterior segment dysgenesis 1 1 0 0 0 2
Developmental cataract 0 0 0 1 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 1
Glaucoma 3A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 6 0 51 111 55 223
GeneDx 1 0 14 68 72 155
Ambry Genetics 0 0 119 8 0 127
Breakthrough Genomics, Breakthrough Genomics 0 1 3 26 49 79
PreventionGenetics, part of Exact Sciences 0 1 4 23 16 44
CeGaT Center for Human Genetics Tuebingen 0 0 6 6 0 12
Genome-Nilou Lab 0 0 0 0 12 12
Clinical Genetics, Academic Medical Center 0 0 1 2 5 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 5 1 7
Genetics Department, University Hospital of Toulouse 5 0 1 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 1 0 0 5
OMIM 4 0 0 0 0 4
Revvity Omics, Revvity 0 1 1 0 0 2
Eye Genetics Research Group, Children's Medical Research Institute 1 0 0 1 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 1
3billion 0 0 1 0 0 1
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 1 0 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 1

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