Submissions for variant NM_000875.5(IGF1R):c.2700C>T (p.Asn900=)

gnomAD frequency: 0.00749  dbSNP: rs56400113

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174496	SCV000225806	benign	not specified	2015-05-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000376170	SCV000394492	likely benign	Growth delay due to insulin-like growth factor I resistance	2018-01-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000973103	SCV001120842	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000973103	SCV004130981	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	IGF1R: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000973103	SCV005216252	likely benign	not provided		criteria provided, single submitter	not provided