ClinVar Miner

Submissions for variant NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)

gnomAD frequency: 0.00414  dbSNP: rs61735357
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000175615 SCV000227135 benign not specified 2014-10-31 criteria provided, single submitter clinical testing
Invitae RCV000872441 SCV001014253 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990051 SCV001140815 benign Autosomal dominant isolated somatotropin deficiency 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001122917 SCV001281695 likely benign 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. 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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