ClinVar Miner

Variants studied for Leber congenital amaurosis 8

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
321 214 485 727 35 2 1673

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CRB1 319 214 485 727 35 2 1671
ASPM, CFHR2, CFHR5, CRB1, DENND1B, F13B, ZBTB41 1 0 0 0 0 0 1
ASPM, CRB1, ZBTB41 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 290 82 421 716 31 0 1540
Genome-Nilou Lab 48 32 78 24 8 0 190
Baylor Genetics 67 73 1 0 0 0 141
Laboratory of Genetics in Ophthalmology, Institut Imagine 43 29 4 0 0 0 76
Illumina Laboratory Services, Illumina 0 0 56 12 1 0 69
Fulgent Genetics, Fulgent Genetics 9 5 18 4 0 0 36
OMIM 5 0 0 0 0 0 5
Molecular Genetics Laboratory, Institute for Ophthalmic Research 4 0 1 0 0 0 5
3billion 2 2 1 0 0 0 5
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 0 3
DBGen Ocular Genomics 1 2 0 0 0 0 3
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
Pars Genome Lab 0 0 0 2 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Mendelics 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Kunming Medical University 0 1 0 0 0 0 1

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