Submissions for variant NM_198407.2(GHSR):c.477G>A (p.Arg159=)

gnomAD frequency: 0.24499  dbSNP: rs572169

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249477	SCV000316929	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000347022	SCV000442157	benign	Short stature due to growth hormone secretagogue receptor deficiency	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab	RCV000347022	SCV001933782	benign	Short stature due to growth hormone secretagogue receptor deficiency	2021-08-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001723864	SCV001950613	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV001723864	SCV002343476	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing