ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.1956T>G (p.Pro652=)

gnomAD frequency: 0.00086  dbSNP: rs45598332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000274313 SCV000334737 uncertain significance not provided 2015-09-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000274313 SCV001059370 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543017 SCV004757832 likely benign IGF1R-related disorder 2023-12-27 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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