ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287313 SCV002577606 pathogenic Diamond-Blackfan anemia 7 2022-04-14 criteria provided, single submitter clinical testing PVS1, PM2
GeneDx RCV002509827 SCV002818789 pathogenic not provided 2023-01-03 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 19061985)
Revvity Omics, Revvity RCV002287313 SCV003824953 pathogenic Diamond-Blackfan anemia 7 2022-06-17 criteria provided, single submitter clinical testing

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