ClinVar Miner

Variants in gene combination CRYGC, LOC100507443

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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 8 46 17 15 97

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nuclear pulverulent cataract 2 2 22 8 10 44
not provided 7 2 2 7 7 25
Inborn genetic diseases 0 1 23 0 0 24
Cataract 2, multiple types 8 1 5 1 0 14
CRYGC-related disorder 2 2 4 3 1 12
Developmental cataract 2 0 0 0 0 2
Cataract 2, Coppock-like 1 0 0 0 0 1
Usher syndrome type 2C 0 0 0 0 1 1
not specified 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 2 2 22 8 10 44
Ambry Genetics 0 1 23 0 0 24
GeneDx 4 1 1 7 6 19
PreventionGenetics, part of Exact Sciences 2 2 4 3 1 12
Breakthrough Genomics, Breakthrough Genomics 0 0 0 5 4 9
OMIM 5 0 1 0 0 6
CeGaT Center for Human Genetics Tuebingen 3 0 1 1 0 5
Eye Genetics Research Group, Children's Medical Research Institute 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 1 2
Baylor Genetics 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
Revvity Omics, Revvity 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 1 0 0 0 1

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