ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.1610+2T>C

gnomAD frequency: 0.00001  dbSNP: rs797045624
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194300 SCV000247614 pathogenic Hyperinsulinism due to INSR deficiency 2015-01-07 criteria provided, single submitter clinical testing

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