ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.56A>G (p.Lys19Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005010213 SCV005641935 uncertain significance Diamond-Blackfan anemia 7 2024-02-14 criteria provided, single submitter clinical testing

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