Submissions for variant NM_001142800.2(EYS):c.2598C>T (p.Cys866=)

gnomAD frequency: 0.00040  dbSNP: rs183814213

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000882507	SCV001025749	likely benign	not provided	2024-11-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001162838	SCV001324812	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.
CeGaT Center for Human Genetics Tuebingen	RCV000882507	SCV004157481	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	EYS: BP4, BP7
Natera, Inc.	RCV001274985	SCV001459631	uncertain significance	Autosomal recessive retinitis pigmentosa	2020-06-25	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000882507	SCV001924086	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000882507	SCV001970587	likely benign	not provided		no assertion criteria provided	clinical testing