ClinVar Miner

Variants studied for Senior-Loken syndrome 5

Included ClinVar conditions (1):
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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
22 21 73 16 9 141

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 total
IQCB1 22 21 73 16 9 141

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 6 0 41 14 0 61
Illumina Laboratory Services, Illumina 1 0 35 4 7 47
Baylor Genetics 17 18 0 0 0 35
OMIM 9 0 0 0 0 9
Mendelics 1 0 0 0 3 4
Ocular Genomics Institute, Massachusetts Eye and Ear 3 1 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 1 0 0 0 4
3billion 2 1 0 0 0 3
Revvity Omics, Revvity 1 0 1 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 1 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 1

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