ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.257T>C (p.Val86Ala)

dbSNP: rs193929360
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003137539 SCV003824366 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing
GeneReviews RCV000020285 SCV000040642 not provided Permanent neonatal diabetes mellitus no assertion provided literature only

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