ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter)

dbSNP: rs562624441
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503552 SCV000597105 pathogenic Oculocutaneous albinism type 4 2015-12-03 criteria provided, single submitter clinical testing

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