ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter) (rs779193823)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of genome diagnostics,Academic Medical Center, University of Amsterdam RCV000853196 SCV000995055 pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 2019-10-08 no assertion criteria provided clinical testing

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