ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro)

dbSNP: rs1048095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Madras Diabetes Research Foundation RCV002051791 SCV002318406 likely pathogenic Neonatal diabetes mellitus criteria provided, single submitter clinical testing
GeneReviews RCV000020291 SCV000040652 not provided Permanent neonatal diabetes mellitus no assertion provided literature only

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