ClinVar Miner

Submissions for variant NM_000208.3(INSR):c.3034G>A (p.Val1012Met) (rs1799816)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515071 SCV000609894 likely benign not provided 2017-08-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175131 SCV000226563 benign not specified 2015-01-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000175131 SCV000151454 uncertain significance not specified 2014-07-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344820 SCV000415459 likely benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000015822 SCV000036089 uncertain significance Diabetes mellitus type 2 1999-03-01 no assertion criteria provided literature only
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445519 SCV000537110 benign Monogenic diabetes 2015-12-04 criteria provided, single submitter research ACMG Criteria: PP3, PP5 (OMIM), BS1 (1000G SAS), BS2 (type2diabetesgenetics.org), BP6 (Emory)

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