ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln)

dbSNP: rs121913156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001818162 SCV002069084 pathogenic not provided 2018-01-24 criteria provided, single submitter clinical testing
OMIM RCV000015823 SCV000036090 pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans 2004-06-01 no assertion criteria provided literature only
OMIM RCV000125461 SCV000168913 pathogenic Hyperinsulinism due to INSR deficiency 2004-06-01 no assertion criteria provided literature only

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