ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.118G>A (p.Glu40Lys)

dbSNP: rs794727236
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175536 SCV000227038 pathogenic not provided 2014-11-22 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003388832 SCV004100719 likely pathogenic Maturity-onset diabetes of the young type 2 2023-10-16 criteria provided, single submitter clinical testing Criteria applied: PS4,PM2_SUP,PP2,PP3

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