ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4119+1G>A

dbSNP: rs797045211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193386 SCV000246299 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2015-07-29 criteria provided, single submitter clinical testing
Counsyl RCV000193386 SCV000790402 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2017-03-24 no assertion criteria provided clinical testing

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