ClinVar Miner

Submissions for variant NM_003235.5(TG):c.2697G>C (p.Trp899Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004566576 SCV005049754 uncertain significance Iodotyrosyl coupling defect 2024-02-29 criteria provided, single submitter clinical testing
GeneDx RCV004723609 SCV005333009 uncertain significance not provided 2023-04-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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