ClinVar Miner

Submissions for variant NM_003749.3(IRS2):c.3170G>A (p.Gly1057Asp)

gnomAD frequency: 0.28401  dbSNP: rs1805097
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003974814 SCV004799340 benign IRS2-related condition 2019-10-17 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000009368 SCV000029586 risk factor DIABETES, TYPE II, SUSCEPTIBILITY TO 2001-10-01 no assertion criteria provided literature only

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