ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) (rs146588336)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725784 SCV000339349 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194649 SCV000247620 uncertain significance not specified 2015-06-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286740 SCV000415472 likely benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341695 SCV000415473 likely benign Pineal hyperplasia AND diabetes mellitus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382385 SCV000415474 likely benign Leprechaunism syndrome 2016-06-14 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445398 SCV000537111 likely benign Monogenic diabetes 2015-07-31 criteria provided, single submitter research ACMG Criteria: BS2, BP4

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