ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.629T>A (p.Met210Lys) (rs80356654)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000017521 SCV000040491 pathologic Permanent neonatal diabetes mellitus 2011-07-05 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000017521 SCV000037793 pathogenic Permanent neonatal diabetes mellitus 2001-05-24 no assertion criteria provided literature only
OMIM RCV000190348 SCV000243895 pathogenic Maturity-onset diabetes of the young, type 2 2001-05-24 no assertion criteria provided literature only

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