Submissions for variant NM_178857.6(RP1L1):c.4019A>G (p.Glu1340Gly)

gnomAD frequency: 0.28032  dbSNP: rs9657518

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000368596	SCV000471131	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.
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV000368596	SCV001984688	benign	Occult macular dystrophy	2020-07-01	criteria provided, single submitter	clinical testing
Mendelics	RCV001354270	SCV002519988	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001354270	SCV001548843	benign	not specified		no assertion criteria provided	clinical testing