Variants studied for MAK-related retinopathy

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	total
9	20	4	1	2	35

Gene and significance breakdown #

Total genes and gene combinations: 1

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
MAK	9	20	4	1	2	35

Submitter and significance breakdown #

Total submitters: 16

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	2	12	1	0	0	15
OMIM	5	0	0	0	0	5
Ocular Genomics Institute, Massachusetts Eye and Ear	1	2	1	0	0	4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	1	2
Revvity Omics, Revvity	0	1	1	0	0	2
Baylor Genetics	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	1
Department of Medical Genetics, Erciyes University Faculty of Medicine	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.