ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.652C>A (p.Arg218Ser)

dbSNP: rs281865238
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002468566 SCV002765137 likely pathogenic Vitelliform macular dystrophy 2 2022-12-20 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815151 SCV005069218 likely pathogenic Retinal dystrophy 2018-01-01 criteria provided, single submitter clinical testing
Retina International RCV000086149 SCV000118293 not provided not provided no assertion provided not provided

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