Submissions for variant NM_000875.5(IGF1R):c.1310G>A (p.Arg437His)

gnomAD frequency: 0.00287  dbSNP: rs34516635

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179350	SCV000231585	likely benign	not specified	2014-08-01	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513938	SCV000610115	likely benign	not provided	2017-03-17	criteria provided, single submitter	clinical testing
Invitae	RCV000513938	SCV001030410	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001118944	SCV001277266	likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000513938	SCV004130973	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	IGF1R: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003927678	SCV004744901	benign	IGF1R-related condition	2019-06-25	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).