ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.828C>G (p.Phe276Leu)

dbSNP: rs281865248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Fundacion Jimenez Diaz University Hospital RCV001270359 SCV001450586 uncertain significance Vitelliform macular dystrophy 2 criteria provided, single submitter clinical testing Variant not found in population databases, predicted deleterious by in-silico pathogenicity predictors. (ACMG: PM2 Moderate; PP3 Supporting)
Retina International RCV000086173 SCV000118317 not provided not provided no assertion provided not provided

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