ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.878A>C (p.His293Pro)

dbSNP: rs587783175
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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 RCV000145007 SCV000192043 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2014-01-17 criteria provided, single submitter clinical testing

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