ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup)

dbSNP: rs797045212
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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 RCV000193129 SCV000246302 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2015-04-15 criteria provided, single submitter clinical testing

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