ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) (rs150114699)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000192459 SCV000247621 likely benign not specified 2018-12-31 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664154 SCV000787606 benign Monogenic diabetes 2018-03-16 criteria provided, single submitter research ACMG criteria: PP3 (4 predictors), BP4 (6 predictors), BS2 (12 controls and 12 cases from T2DM), BS1 (1% MAF in 1000g and ExAC African, but disease frequency of AD form is 1 in 100,000) NOTE: called VUS by Chicago=benign
Invitae RCV000883525 SCV001026837 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990140 SCV001140959 likely benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2019-05-28 criteria provided, single submitter clinical testing

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