ClinVar Miner

Submissions for variant NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3])

dbSNP: rs10654394
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194292 SCV000248570 likely benign not specified 2015-04-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000376949 SCV000429457 likely benign Obesity due to pro-opiomelanocortin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284681 SCV000429458 likely benign Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000194292 SCV000856779 benign not specified 2017-09-26 criteria provided, single submitter clinical testing
GeneDx RCV001640289 SCV001861590 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15472174)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001640289 SCV002011220 benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Invitae RCV001640289 SCV002367798 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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