ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) (rs78433961)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664155 SCV000787607 uncertain significance Monogenic diabetes 2017-03-10 criteria provided, single submitter research ACMG Criteria:BP4 (9 predictors)
Fulgent Genetics,Fulgent Genetics RCV000765480 SCV000896771 uncertain significance Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinemic hypoglycemia familial 5; Leprechaunism syndrome; Pineal hyperplasia AND diabetes mellitus syndrome 2018-10-31 criteria provided, single submitter clinical testing

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