Submissions for variant NM_178857.6(RP1L1):c.6853G>A (p.Gly2285Arg)

gnomAD frequency: 0.41338  dbSNP: rs55642448

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000392068	SCV000471046	benign	Occult macular dystrophy	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001675875	SCV001892244	benign	not provided	2018-08-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000392068	SCV002033689	benign	Occult macular dystrophy	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795997	SCV002033690	benign	Retinitis pigmentosa 88	2021-11-07	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888850	SCV004705794	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528338	SCV001739927	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528338	SCV001951153	benign	not specified		no assertion criteria provided	clinical testing