ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) (rs193929375)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518294 SCV000613406 likely pathogenic not provided 2016-11-21 criteria provided, single submitter clinical testing
GeneReviews RCV000020166 SCV000040494 pathologic Permanent neonatal diabetes mellitus 2011-07-05 no assertion criteria provided curation Converted during submission to Pathogenic.

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