ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.190T>C (p.Leu64=) (rs144836032)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724825 SCV000227061 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000175554 SCV000595248 likely benign not specified 2016-03-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000408261 SCV000415580 likely benign Pineal hyperplasia AND diabetes mellitus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285456 SCV000415581 likely benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342749 SCV000415582 likely benign Leprechaunism syndrome 2016-06-14 criteria provided, single submitter clinical testing

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