ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.2298C>T (p.Thr766=)

gnomAD frequency: 0.05461  dbSNP: rs3743262
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174019 SCV000225247 benign not specified 2014-12-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266494 SCV000394490 benign Growth delay due to insulin-like growth factor I resistance 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001723746 SCV001949521 benign not provided 2018-12-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20416304)
Invitae RCV001723746 SCV002450713 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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