Submissions for variant NM_000163.5(GHR):c.1319G>T (p.Cys440Phe)

gnomAD frequency: 0.01122  dbSNP: rs6182

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000342816	SCV000331311	benign	not specified	2016-07-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000392588	SCV000457661	benign	Laron-type isolated somatotropin defect	2018-03-06	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
SIB Swiss Institute of Bioinformatics	RCV000392588	SCV000803516	benign	Laron-type isolated somatotropin defect	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign - Stand Alone, for Laron syndrome, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.).
GeneDx	RCV001572964	SCV001869785	benign	not provided	2021-06-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 8421103, 20981092, 10566675, 19344888)
Invitae	RCV001572964	SCV002399480	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572964	SCV001798132	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000342816	SCV001971012	benign	not specified		no assertion criteria provided	clinical testing