ClinVar Miner

Variants in gene CRYBB3

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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 total
4 4 70 27 20 107

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cataract 22 multiple types 3 3 40 16 10 63
Inborn genetic diseases 0 0 33 1 0 34
not provided 1 0 9 12 17 33
Congenital nuclear cataract 0 0 2 3 2 7
CRYBB3-related disorder 0 0 1 3 0 4
not specified 0 0 0 0 3 3
Developmental cataract 1 1 0 0 0 2
Cataract; Microphthalmia 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 30 6 3 39
Labcorp Genetics (formerly Invitae), Labcorp 1 1 15 11 9 37
Ambry Genetics 0 0 33 1 0 34
GeneDx 1 0 4 4 15 24
Breakthrough Genomics, Breakthrough Genomics 0 0 3 5 5 13
PreventionGenetics, part of Exact Sciences 0 0 1 3 3 7
CeGaT Center for Human Genetics Tuebingen 0 0 2 5 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 0 3
OMIM 2 0 0 0 0 2
Eye Genetics Research Group, Children's Medical Research Institute 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
3billion 0 1 0 0 0 1
Laboratório de Alta Complexidade, Instituto Fernandes Figueira - FIOCRUZ 1 0 0 0 0 1

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