Submissions for variant NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)

gnomAD frequency: 0.03363  dbSNP: rs111631988

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177042	SCV000228854	benign	not specified	2015-05-13	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000177042	SCV000269758	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Ile75Val in exon 3 of RPGR: This variant is not expected to have clinical sign ificance because it has been identified in 8.9% (343/3833) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs111631988).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474670	SCV000557300	benign	Primary ciliary dyskinesia	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000086937	SCV001950986	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22995991, 22025579, 9399904, 27884173)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000177042	SCV002074202	likely benign	not specified	2022-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000474670	SCV002727944	benign	Primary ciliary dyskinesia	2014-12-01	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV000086937	SCV002759503	benign	not provided	2019-11-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498471	SCV002808043	benign	X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic	2021-11-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000086937	SCV005209240	likely benign	not provided		criteria provided, single submitter	not provided
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV000086937	SCV000119189	not provided	not provided		no assertion provided	not provided
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000086937	SCV000172560	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.