Submissions for variant NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)

gnomAD frequency: 0.00667  dbSNP: rs111991705

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000239188	SCV000297037	likely benign	not specified	2015-10-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000239188	SCV000341375	likely benign	not specified	2016-05-24	criteria provided, single submitter	clinical testing
Counsyl	RCV000667682	SCV000792170	likely benign	Retinitis pigmentosa 25	2017-06-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000667682	SCV000885390	likely benign	Retinitis pigmentosa 25	2019-09-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000757241	SCV000969393	likely benign	not provided	2016-07-26	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.
Invitae	RCV000757241	SCV001121330	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000667682	SCV001137155	likely benign	Retinitis pigmentosa 25	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001164472	SCV001326604	uncertain significance	Retinitis pigmentosa	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000239188	SCV002103597	likely benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888653	SCV004707403	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Natera, Inc.	RCV001164472	SCV001453478	benign	Retinitis pigmentosa	2019-12-27	no assertion criteria provided	clinical testing