Submissions for variant NM_001142800.2(EYS):c.1899A>G (p.Gln633=)

gnomAD frequency: 0.00153  dbSNP: rs373197894

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000300630	SCV000464472	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000905514	SCV001050100	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001277012	SCV001463744	likely benign	Retinitis pigmentosa 25	2019-10-28	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700090	SCV001920279	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000905514	SCV001970091	likely benign	not provided		no assertion criteria provided	clinical testing