ClinVar Miner

Submissions for variant NM_002303.6(LEPR):c.-122T>C

gnomAD frequency: 0.47981  dbSNP: rs3790435
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000337663 SCV000358787 benign Obesity due to leptin receptor gene deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000396999 SCV000358788 benign Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713701 SCV005287377 benign not provided criteria provided, single submitter not provided

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