ClinVar Miner

Variants studied for CERKL-related retinopathy

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
29 66 65 13 16 173

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CERKL 26 56 56 10 14 147
CERKL, LOC129935214 2 4 4 0 1 10
CERKL, LOC129935215 0 4 4 2 0 10
CERKL, ITGA4 1 2 1 1 1 6

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 12 9 54 12 7 94
Baylor Genetics 19 48 0 0 0 67
Genome-Nilou Lab 0 0 0 0 10 10
Ocular Genomics Institute, Massachusetts Eye and Ear 4 4 1 0 0 9
Fulgent Genetics, Fulgent Genetics 2 2 4 0 0 8
Revvity Omics, Revvity 1 1 4 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 2 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 2 0 0 5
OMIM 4 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 2 4
Mendelics 1 2 0 0 1 4
Counsyl 0 2 1 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 1 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 2
3billion 0 1 1 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
DBGen Ocular Genomics 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1

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