ClinVar Miner

Submissions for variant NM_000939.4(POMC):c.133-2A>C

dbSNP: rs1553400259
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500140 SCV000596511 pathogenic Obesity due to pro-opiomelanocortin deficiency 2016-10-12 criteria provided, single submitter clinical testing

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