ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) (rs121434406)

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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 RCV000499952 SCV000596794 uncertain significance not specified 2016-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000006557 SCV000895194 uncertain significance Diamond-Blackfan anemia 6 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000006557 SCV000026740 pathogenic Diamond-Blackfan anemia 6 2008-12-01 no assertion criteria provided literature only

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