ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.664C>T (p.Gln222Ter)

dbSNP: rs587777118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000087039 SCV002791827 pathogenic Diamond-Blackfan anemia 6 2021-09-24 criteria provided, single submitter clinical testing
OMIM RCV000087039 SCV000119853 pathogenic Diamond-Blackfan anemia 6 2013-08-01 no assertion criteria provided literature only

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