ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) (rs141949212)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000500809 SCV000596139 likely pathogenic Tyrosinase-positive oculocutaneous albinism 2015-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624810 SCV000742019 likely pathogenic Inborn genetic diseases 2016-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Fulgent Genetics,Fulgent Genetics RCV000762936 SCV000893359 likely pathogenic Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 1 2018-10-31 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505060 SCV000598891 likely pathogenic Albinism 2015-01-01 no assertion criteria provided research

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