ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.693T>G (p.Ser231Arg)

dbSNP: rs281865244
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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 RCV001073253 SCV001238789 likely pathogenic Retinal dystrophy 2018-08-31 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001073253 SCV005072031 pathogenic Retinal dystrophy 2011-01-01 criteria provided, single submitter clinical testing
Retina International RCV000086159 SCV000118303 not provided not provided no assertion provided not provided

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