ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2193G>A (p.Thr731=) (rs6413501)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173658 SCV000224793 likely benign not specified 2014-10-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405596 SCV000415523 likely benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310286 SCV000415524 likely benign Pineal hyperplasia AND diabetes mellitus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367262 SCV000415525 likely benign Leprechaunism syndrome 2016-06-14 criteria provided, single submitter clinical testing

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