ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp)

gnomAD frequency: 0.00919  dbSNP: rs62646879
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000327868 SCV000341027 benign not specified 2016-04-14 criteria provided, single submitter clinical testing
Invitae RCV001081118 SCV000641417 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001112991 SCV001270714 benign Cone-rod dystrophy 13 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001112992 SCV001270715 benign Leber congenital amaurosis 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000327868 SCV002103947 likely benign not specified 2022-02-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000086247 SCV003799406 benign not provided 2022-09-13 criteria provided, single submitter clinical testing
Retina International RCV000086247 SCV000118393 not provided not provided no assertion provided not provided

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.