ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg)

dbSNP: rs80356642
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001089457 SCV000029889 pathogenic Diabetes mellitus, permanent neonatal 3 2006-08-03 no assertion criteria provided literature only
GeneReviews RCV000009671 SCV000040651 not provided Permanent neonatal diabetes mellitus no assertion provided literature only

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