Submissions for variant NM_000875.5(IGF1R):c.1950G>T (p.Arg650=)

gnomAD frequency: 0.00378  dbSNP: rs56294552

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000374362	SCV000333557	benign	not specified	2015-08-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000325797	SCV000394488	likely benign	Growth delay due to insulin-like growth factor I resistance	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000959148	SCV001106037	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000959148	SCV002822218	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	IGF1R: BP4, BP7, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000374362	SCV001799757	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000959148	SCV001964401	likely benign	not provided		no assertion criteria provided	clinical testing