ClinVar Miner

Submissions for variant NM_002303.6(LEPR):c.1967dup (p.Glu657fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759652 SCV005368457 likely pathogenic Obesity due to leptin receptor gene deficiency 2022-11-29 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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