ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.535C>T (p.Arg179Cys) (rs121909362)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723957 SCV000231487 uncertain significance not provided 2018-07-13 criteria provided, single submitter clinical testing
GeneDx RCV000723957 SCV000321723 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 7565946, 17462934, 8504296, 28498917, 29748515, 29073591, 27914676, 32935225)
Mayo Clinic Laboratories, Mayo Clinic RCV000660368 SCV000782439 uncertain significance Laron-type isolated somatotropin defect; Short stature, idiopathic, autosomal 2016-05-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764609 SCV000895708 uncertain significance Laron-type isolated somatotropin defect; Short stature, idiopathic, autosomal; Familial hypercholesterolemia 1; Short stature due to growth hormone secretagogue receptor deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000723957 SCV001012287 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723957 SCV001154400 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001156022 SCV001317495 likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
OMIM RCV000009169 SCV000029386 pathogenic Short stature, idiopathic, autosomal 1995-10-26 no assertion criteria provided literature only

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