Submissions for variant NM_000515.5(GH1):c.597C>G (p.Val199=)

gnomAD frequency: 0.00029  dbSNP: rs142704768

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000735049	SCV000863237	uncertain significance	not provided	2018-09-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001123896	SCV001282777	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000735049	SCV002947300	likely benign	not provided	2024-01-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004586911	SCV005077595	benign	not specified	2024-04-18	criteria provided, single submitter	clinical testing