ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.364T>C (p.Trp122Arg)

dbSNP: rs190314158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002469211 SCV002765865 uncertain significance not provided 2022-06-14 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; Also known as p.(W104R); This variant is associated with the following publications: (PMID: 20583548)
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000581563 SCV000692132 pathogenic Laron-type isolated somatotropin defect 2012-12-10 no assertion criteria provided clinical testing

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