ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.580del (p.Ile194fs) (rs797046132)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica Humana; Universidad de los Andes RCV000194340 SCV000249553 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2013-11-01 no assertion criteria provided research

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