ClinVar Miner

Submissions for variant NM_000939.4(POMC):c.84C>A (p.Cys28Ter)

dbSNP: rs1573254045
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000825008 SCV000966200 pathogenic Obesity due to pro-opiomelanocortin deficiency 2018-05-09 criteria provided, single submitter clinical testing

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