ClinVar Miner

Variants in gene GCNT2

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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
20 5 109 37 44 201

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Blood group, I system 0 0 59 8 19 86
not provided 5 1 13 17 25 60
Cataract 13 with adult I phenotype 12 3 15 4 9 40
GCNT2-related disorder 0 0 6 7 2 15
Inborn genetic diseases 0 0 15 0 0 15
Adult i blood group with or without congenital cataract 0 0 5 2 0 7
not specified 0 0 0 1 3 4
ADULT i BLOOD GROUP PHENOTYPE 2 0 0 0 0 2
Developmental cataract 1 1 0 0 0 2
Blood group, I system; Cataract 13 with adult I phenotype 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 64 10 19 93
GeneDx 0 0 1 9 25 35
Labcorp Genetics (formerly Invitae), Labcorp 9 2 8 4 8 31
PreventionGenetics, part of Exact Sciences 0 0 6 8 4 18
Ambry Genetics 0 0 15 0 0 15
Bionano Laboratories 5 0 6 0 0 11
Breakthrough Genomics, Breakthrough Genomics 0 0 4 3 0 7
OMIM 5 0 0 0 0 5
CeGaT Center for Human Genetics Tuebingen 0 0 1 4 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 3 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 0 0 2
Department of Ophthalmology, Flinders University 1 1 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 0 1 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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