ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly)

gnomAD frequency: 0.09832  dbSNP: rs62415826
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079539 SCV000111421 benign not specified 2013-09-19 criteria provided, single submitter clinical testing
GeneDx RCV000124936 SCV000168376 benign not provided 2011-08-11 criteria provided, single submitter clinical testing The variant is found in ARRP panel(s).
Illumina Laboratory Services, Illumina RCV000304020 SCV000464429 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 RCV000124936 SCV001731870 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001530503 SCV001745355 benign Retinitis pigmentosa 25 2021-07-01 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888428 SCV004707505 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV000304020 SCV001459418 benign Retinitis pigmentosa 2020-09-16 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000079539 SCV001952400 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000124936 SCV001971627 likely benign not provided no assertion criteria provided clinical testing

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