Submissions for variant NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=)

gnomAD frequency: 0.00130  dbSNP: rs144585562

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000379104	SCV000335764	benign	not specified	2015-10-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000400691	SCV000385389	benign	Cone-rod dystrophy 13	2018-01-12	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.
Illumina Laboratory Services, Illumina	RCV000298204	SCV000385390	likely benign	Leber congenital amaurosis 6	2018-01-12	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000951562	SCV001097972	benign	Cone-rod dystrophy 13; Leber congenital amaurosis 6	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001668621	SCV001887571	benign	not provided	2018-12-06	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000379104	SCV001920251	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000379104	SCV001973748	benign	not specified		no assertion criteria provided	clinical testing