ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.995G>A (p.Cys332Tyr)

dbSNP: rs1596409872
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de recherche St Antoine, Sorbonne Université, INSERM, Sorbonne University RCV000852354 SCV000926291 likely pathogenic Growth delay due to insulin-like growth factor I resistance 2019-01-04 criteria provided, single submitter clinical testing

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