ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.236del (p.Tyr79fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003486402 SCV004239132 pathogenic Diamond-Blackfan anemia 6 2024-01-31 criteria provided, single submitter clinical testing

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