ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.241G>A (p.Val81Met) (rs1555098634)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075495 SCV001241119 likely pathogenic Retinal dystrophy 2018-11-08 criteria provided, single submitter clinical testing
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres RCV000661905 SCV000778391 likely pathogenic Vitelliform macular dystrophy type 2 2018-02-05 no assertion criteria provided provider interpretation

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