ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) (rs61754392)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003995 SCV000024161 pathogenic Tyrosinase-negative oculocutaneous albinism 1991-02-01 no assertion criteria provided literature only
Retina International RCV000085914 SCV000118057 not provided not provided no assertion provided not provided
University of Washington Center for Mendelian Genomics,University of Washington RCV000755080 SCV000882898 likely pathogenic Nonsyndromic Oculocutaneous Albinism 2017-03-07 no assertion criteria provided research

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