Submissions for variant NM_006269.2(RP1):c.2615G>A (p.Arg872His)

gnomAD frequency: 0.24558  dbSNP: rs444772

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153847	SCV000203430	benign	not specified	2014-02-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000277987	SCV000474175	benign	Retinitis pigmentosa	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.
Invitae	RCV001519926	SCV001728891	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795275	SCV002033681	benign	Retinitis pigmentosa 1	2021-11-07	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888595	SCV004706713	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000153847	SCV001741082	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000153847	SCV001954904	benign	not specified		no assertion criteria provided	clinical testing