ClinVar Miner

Submissions for variant NM_000352.3(ABCC8):c.-113G>A

gnomAD frequency: 0.00007  dbSNP: rs886048056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296202 SCV000369440 uncertain significance Transient Neonatal Diabetes, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351032 SCV000369441 uncertain significance Permanent neonatal diabetes mellitus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000403962 SCV000369442 uncertain significance Hyperinsulinism, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing

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