ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.1735C>A (p.Pro579Thr)

gnomAD frequency: 0.01120  dbSNP: rs6184
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000403857 SCV000331312 benign not specified 2016-07-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272583 SCV000457667 benign Laron-type isolated somatotropin defect 2018-03-06 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.
Athena Diagnostics Inc RCV000272583 SCV000677313 benign Laron-type isolated somatotropin defect 2017-06-29 criteria provided, single submitter clinical testing
GeneDx RCV001722384 SCV001949493 benign not provided 2021-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19344888, 19447840, 8664975, 20981092, 8421103)
Invitae RCV001722384 SCV002324484 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000403857 SCV001798328 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000403857 SCV001974554 benign not specified no assertion criteria provided clinical testing

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