ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.484G>A (p.Val162Ile) (rs6413484)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711804 SCV000842207 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Invitae RCV000711804 SCV001012397 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000987521 SCV001136833 uncertain significance Laron-type isolated somatotropin defect 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000987521 SCV001317493 benign Laron-type isolated somatotropin defect 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
OMIM RCV000009184 SCV000029401 pathogenic Short stature, idiopathic, autosomal 1998-11-01 no assertion criteria provided literature only

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