ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1969G>C (p.Gly657Arg)

dbSNP: rs879253729
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Science and Research Branch, Islamic Azad University, Islamic Azad University RCV000234793 SCV000245341 likely pathogenic Tyrosinase-positive oculocutaneous albinism 2015-06-20 criteria provided, single submitter clinical testing

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