Submissions for variant NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser)

gnomAD frequency: 0.41802  dbSNP: rs74990397

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000369318	SCV000471211	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	RCV001613208	SCV001836728	benign	not provided	2019-01-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000369318	SCV002033726	benign	Occult macular dystrophy	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001796014	SCV002033727	benign	Retinitis pigmentosa 88	2021-11-07	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888880	SCV004705956	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528979	SCV001741656	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528979	SCV001956393	benign	not specified		no assertion criteria provided	clinical testing