ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.41G>A (p.Arg14Gln)

gnomAD frequency: 0.00001  dbSNP: rs146103500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001561682 SCV001784327 uncertain significance not provided 2019-07-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001836447 SCV002088712 uncertain significance Myopathy, lactic acidosis, and sideroblastic anemia 2020-12-05 no assertion criteria provided clinical testing

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