ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.1103del (p.Lys368fs) (rs387906560)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724728 SCV000331889 pathogenic not provided 2016-09-22 criteria provided, single submitter clinical testing
OMIM RCV000019158 SCV000039446 pathogenic Oculocutaneous albinism type 3 1997-11-01 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504733 SCV000599078 pathogenic Albinism 2015-01-01 no assertion criteria provided research

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