ClinVar Miner

Submissions for variant NM_000230.2(LEP):c.280G>A (p.Val94Met) (rs17151919)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000394361 SCV000466629 likely benign Leptin deficiency or dysfunction 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306659 SCV000466630 likely benign Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445399 SCV000537048 benign Monogenic diabetes 2017-09-01 criteria provided, single submitter research ACMG Criteria:BS1 (9% in african), BS2 (52 homo in ExAC, 191 cases and 210 controls in type2diabetesgenetics.org), BP4 (9 predictors)

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