ClinVar Miner

Variants studied for LTBP2-related ocular dysgenesis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
8 6 204 18 16 4 251

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LTBP2 8 6 204 18 16 4 251

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 174 15 11 0 200
Fulgent Genetics, Fulgent Genetics 0 1 22 0 2 0 25
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 13 2 0 0 15
OMIM 7 0 0 0 0 0 7
3billion 1 0 2 1 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Baylor Genetics 0 1 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1

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