ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser)

gnomAD frequency: 0.00121  dbSNP: rs186499459
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000356774 SCV000332804 uncertain significance not provided 2015-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000356774 SCV001117039 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833313 SCV002084355 likely benign Retinitis pigmentosa 25 2020-01-31 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003947838 SCV004762266 likely benign EYS-related disorder 2022-04-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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