ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1954C>A (p.Pro652Thr)

dbSNP: rs267602340
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758687 SCV001995686 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing Not observed 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
Mayo Clinic Laboratories, Mayo Clinic RCV001758687 SCV005412215 uncertain significance not provided 2023-12-07 criteria provided, single submitter clinical testing BP4, PM2_moderate

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