ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6191+2T>C

dbSNP: rs1769469813
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073634 SCV001239185 likely pathogenic Retinal dystrophy 2019-07-26 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001702082 SCV001933039 likely pathogenic Retinitis pigmentosa 2021-09-22 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001073634 SCV005072330 pathogenic Retinal dystrophy 2018-01-01 no assertion criteria provided clinical testing

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