ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.718T>C (p.Tyr240His) (rs143814221)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179726 SCV000232020 uncertain significance not provided 2014-12-18 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626627 SCV000747328 pathogenic Seizures; Short stature; Specific learning disability; Genu varum; Relative macrocephaly; Mesomelic/rhizomelic limb shortening; Disproportionate short-limb short stature 2017-01-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000581226 SCV001317497 uncertain significance Laron-type isolated somatotropin defect 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198886 SCV001369881 uncertain significance Short stature, idiopathic, autosomal 2020-04-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000581226 SCV000692135 pathogenic Laron-type isolated somatotropin defect 2017-05-04 no assertion criteria provided clinical testing

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