ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.3187-2A>T

dbSNP: rs886042346
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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) RCV000333916 SCV000333576 likely pathogenic not provided 2015-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000333916 SCV002762283 likely pathogenic not provided 2022-12-02 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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