Submissions for variant NM_001142800.2(EYS):c.1809C>T (p.Val603=)

gnomAD frequency: 0.50550  dbSNP: rs9345601

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000153216	SCV000168391	benign	not specified	2011-07-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000153216	SCV000202690	benign	not specified	2014-03-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000260511	SCV000464474	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000605797	SCV000745369	likely benign	Retinitis pigmentosa 25	2017-06-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000605797	SCV000885387	benign	Retinitis pigmentosa 25	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001509835	SCV001716729	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000605797	SCV001745376	benign	Retinitis pigmentosa 25	2021-07-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000153216	SCV003929169	benign	not specified	2023-04-17	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888524	SCV004704648	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV001509835	SCV005222148	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000605797	SCV000734523	benign	Retinitis pigmentosa 25		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000260511	SCV001463558	benign	Retinitis pigmentosa	2020-09-16	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000153216	SCV001954983	benign	not specified		no assertion criteria provided	clinical testing