Submissions for variant NM_000618.5(IGF1):c.207G>A (p.Arg69=)

gnomAD frequency: 0.00152  dbSNP: rs147960415

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175635	SCV000227160	uncertain significance	not provided	2017-02-08	criteria provided, single submitter	clinical testing
Invitae	RCV000175635	SCV001095824	benign	not provided	2024-01-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001114677	SCV001272579	uncertain significance	Growth delay due to insulin-like growth factor type 1 deficiency	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.
CeGaT Center for Human Genetics Tuebingen	RCV000175635	SCV001747662	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	IGF1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000175635	SCV002033805	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000175635	SCV002035447	likely benign	not provided		no assertion criteria provided	clinical testing