Variants studied for Retinitis pigmentosa 38

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
32	15	16	4	16	1	84

Gene and significance breakdown #

Total genes and gene combinations: 5

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
MERTK	28	15	16	4	16	0	79
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: 28

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Genome-Nilou Lab	0	0	0	0	13	0	13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	5	2	3	0	0	0	10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	1	2	2	2	2	0	9
OMIM	8	0	0	0	0	0	8
Mendelics	4	2	0	0	1	0	7
Fulgent Genetics, Fulgent Genetics	1	1	2	2	0	0	6
Ocular Genomics Institute, Massachusetts Eye and Ear	3	2	0	0	0	0	5
Baylor Genetics	1	0	2	0	0	0	3
Juno Genomics, Hangzhou Juno Genomics, Inc	2	0	1	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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	1	1	0	0	0	0	2
3billion, Medical Genetics	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
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	1	0	0	0	0	0	1
Department of Medical Genetics, Erciyes University Faculty of Medicine	0	0	1	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.