ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3679G>T (p.Gly1227Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004820450 SCV005440994 uncertain significance not provided 2024-06-28 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
Fulgent Genetics, Fulgent Genetics RCV005038845 SCV005663516 uncertain significance Cranioectodermal dysplasia 1 2024-04-02 criteria provided, single submitter clinical testing

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