ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu)

dbSNP: rs1554909277
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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 RCV000500160 SCV000592983 pathogenic Permanent neonatal diabetes mellitus 2016-01-20 criteria provided, single submitter clinical testing
Molecular Genetics, Madras Diabetes Research Foundation RCV002051860 SCV002318411 likely pathogenic Neonatal diabetes mellitus criteria provided, single submitter clinical testing

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