ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) (rs33958176)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000487894 SCV000340727 uncertain significance not provided 2016-03-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487894 SCV000575020 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Invitae RCV000487894 SCV001033560 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000015917 SCV001279428 uncertain significance Growth delay due to insulin-like growth factor I resistance 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000015917 SCV000036184 protective Growth delay due to insulin-like growth factor I resistance 2007-04-01 no assertion criteria provided literature only

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