ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.1261+1G>A (rs140365820)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500963 SCV000597808 pathogenic Oculocutaneous albinism type 3 2016-11-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596345 SCV000707887 likely pathogenic not provided 2017-04-18 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504849 SCV000599079 likely pathogenic Albinism 2015-01-01 no assertion criteria provided research

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