ClinVar Miner

Submissions for variant NM_000939.4(POMC):c.*28del

gnomAD frequency: 0.00038  dbSNP: rs756770132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367979 SCV000429451 uncertain significance Obesity due to pro-opiomelanocortin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275874 SCV000429452 uncertain significance Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing

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