Submissions for variant NM_000515.5(GH1):c.406G>A (p.Val136Ile)

gnomAD frequency: 0.00560  dbSNP: rs5388

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178109	SCV000230110	benign	not specified	2015-03-30	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000421927	SCV000511102	likely benign	not provided	2017-01-06	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV000421927	SCV001012284	likely benign	not provided	2024-01-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001128609	SCV001288076	uncertain significance	Decreased response to growth hormone stimulation test	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	RCV000421927	SCV004042014	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	GH1: PM5, BP4, BS2