ClinVar Miner

Variants studied for Leber congenital amaurosis 15

Coded as:
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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
15 7 39 1 7 69

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
TULP1 15 7 39 1 7 69

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 36 1 5 42
Laboratory of Genetics in Ophthalmology, Institut Imagine 9 5 0 0 0 14
OMIM 5 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 1 0 0 4
Baylor Genetics 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
3billion 0 0 1 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 1

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