ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.739T>C (p.Cys247Arg) (rs367543068)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499895 SCV000597787 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2016-03-30 criteria provided, single submitter clinical testing
Laboratorio de Genetica Humana; Universidad de los Andes RCV000133603 SCV000188661 untested Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B no assertion provided not provided Converted during submission to not provided.

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