ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.9229C>T (p.Arg3077Trp) (rs1426289211)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520818 SCV000619151 uncertain significance not provided 2019-12-11 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 a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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