ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2000G>A (p.Arg667His) (rs549456693)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513214 SCV000609217 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Counsyl RCV000670182 SCV000795009 uncertain significance Retinitis pigmentosa 25 2017-10-24 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504709 SCV000599147 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000504709 SCV000926845 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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