ClinVar Miner

Submissions for variant NM_002303.6(LEPR):c.2103C>T (p.Phe701=)

gnomAD frequency: 0.00001  dbSNP: rs755504289
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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 RCV000357850 SCV000358819 uncertain significance Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272541 SCV000358820 uncertain significance Obesity due to leptin receptor gene deficiency 2016-06-14 criteria provided, single submitter clinical testing

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