Submissions for variant NM_000875.5(IGF1R):c.2570A>G (p.Asn857Ser)

gnomAD frequency: 0.00067  dbSNP: rs45611935

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000268527	SCV000336861	benign	not specified	2015-11-05	criteria provided, single submitter	clinical testing
Invitae	RCV000885406	SCV001028846	benign	not provided	2023-12-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001117445	SCV001275631	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	RCV000885406	SCV002549518	likely benign	not provided	2022-01-13	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen	RCV000885406	SCV004130980	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	IGF1R: BS1, BS2