Submissions for variant NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)

gnomAD frequency: 0.21425  dbSNP: rs446227

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081371	SCV000113302	benign	not specified	2015-10-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000286823	SCV000474198	benign	Retinitis pigmentosa	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.
Invitae	RCV000132660	SCV001728893	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795143	SCV002033685	benign	Retinitis pigmentosa 1	2021-11-07	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888440	SCV004706751	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132660	SCV000172611	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.
Faculty of Health Sciences, Beirut Arab University	RCV001257895	SCV001434663	pathogenic	Autosomal recessive retinitis pigmentosa	2012-10-26	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000081371	SCV001739822	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000081371	SCV001918726	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081371	SCV001953404	benign	not specified		no assertion criteria provided	clinical testing