ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) (rs76077021)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000361037 SCV000333614 uncertain significance not provided 2015-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765478 SCV000896769 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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