ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser)

gnomAD frequency: 0.00077  dbSNP: rs145102275
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000297195 SCV000341021 uncertain significance not provided 2016-04-13 criteria provided, single submitter clinical testing
Invitae RCV000297195 SCV001043404 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000297195 SCV001959875 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000297195 SCV001964432 uncertain significance not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001833372 SCV002076659 likely benign Retinitis pigmentosa 25 2019-10-28 no assertion criteria provided clinical testing

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