ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.318C>T (p.Ile106=)

gnomAD frequency: 0.00001  dbSNP: rs1267154320
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733917 SCV000862022 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540071 SCV004777109 likely benign IGF1R-related disorder 2023-04-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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