ClinVar Miner

Submissions for variant NM_000515.5(GH1):c.7A>G (p.Thr3Ala) (rs2001345)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000354911 SCV000343876 benign not specified 2016-07-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576669 SCV000677311 benign Ateleiotic dwarfism; Autosomal dominant isolated somatotropin deficiency; Short stature due to growth hormone qualitative anomaly; Isolated growth hormone deficiency type IB 2017-06-29 criteria provided, single submitter clinical testing
Invitae RCV000864318 SCV001005107 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001126654 SCV001285876 likely benign Growth hormone deficiency 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.

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