ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter)

dbSNP: rs1766367970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199684 SCV001162498 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV002275181 SCV002563904 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing

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