ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.1080C>T (p.Cys360=) (rs56066516)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195237 SCV000247612 likely benign not specified 2016-08-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000195237 SCV000341370 likely benign not specified 2017-09-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326062 SCV000415553 likely benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383106 SCV000415554 likely benign Leprechaunism syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291080 SCV000415555 likely benign Pineal hyperplasia AND diabetes mellitus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000963019 SCV001110144 benign not provided 2018-08-08 criteria provided, single submitter clinical testing

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