ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2295C>T (p.Gly765=) (rs142654992)

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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 RCV000501683 SCV000863127 likely benign not specified 2018-09-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000501683 SCV000595242 likely benign not specified 2015-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364627 SCV000415508 likely benign Pineal hyperplasia AND diabetes mellitus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274691 SCV000415509 likely benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329846 SCV000415510 likely benign Leprechaunism syndrome 2016-06-14 criteria provided, single submitter clinical testing

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