ClinVar Miner

Variants studied for MERTK-related retinopathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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 not provided total
28 14 13 4 16 1 76

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MERTK 24 14 13 4 16 0 71
LOC112806037, MERTK 2 0 0 0 0 0 2
LOC112806037, LOC122817727, LOC129934574, LOC129934575, MERTK, TMEM87B 1 0 0 0 0 0 1
LOC112806037, LOC122817727, MERTK 1 0 0 0 0 0 1
MERTK, TMEM87B 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 0 0 0 0 13 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 2 2 2 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 2 3 0 0 0 9
OMIM 8 0 0 0 0 0 8
Mendelics 4 2 0 0 1 0 7
Fulgent Genetics, Fulgent Genetics 0 1 2 2 0 0 5
Ocular Genomics Institute, Massachusetts Eye and Ear 3 2 0 0 0 0 5
Baylor Genetics 1 0 2 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 0 0 0 0 3
DBGen Ocular Genomics 0 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 0 2
3billion 0 1 1 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1

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