ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.612C>A (p.Tyr204Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002300981 SCV002588285 pathogenic not provided 2022-10-27 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 198 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV003236923 SCV003935952 pathogenic Brain-lung-thyroid syndrome 2023-02-22 criteria provided, single submitter clinical testing

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