ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.95_96del (p.Arg32fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142524 SCV003807056 pathogenic Diamond-Blackfan anemia 7 2022-05-27 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderated

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