Variants studied for Retinitis pigmentosa 59

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
19	19	185	252	6	470

Gene and significance breakdown #

Total genes and gene combinations: 2

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
DHDDS	19	19	184	252	6	469
ARID1A, AUNIP, CATSPER4, CD52, CEP85, CNKSR1, CRYBG2, DHDDS, EXTL1, FAM110D, GPATCH3, GPN2, HMGN2, KDF1, LDLRAP1, LIN28A, MAN1C1, MTFR1L, NR0B2, NUDC, PAFAH2, PAQR7, PDIK1L, PIGV, RPS6KA1, SELENON, SFN, SH3BGRL3, SLC30A2, STMN1, TRIM63, UBXN11, ZDHHC18, ZNF593, ZNF683	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 15

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	19	8	177	250	6	460
Natera, Inc.	1	0	25	4	1	31
Baylor Genetics	1	10	0	0	0	11
Ocular Genomics Institute, Massachusetts Eye and Ear	1	0	2	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	2	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	1	0	0	0	2
Solve-RD Consortium	0	2	0	0	0	2
OMIM	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	1	0	0	0	0	1
Myriad Genetics, Inc.	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	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.