ClinVar Miner

Submissions for variant NM_000230.3(LEP):c.-39G>A

gnomAD frequency: 0.37538  dbSNP: rs2167270
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000329981 SCV000466619 likely benign Obesity due to congenital leptin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375354 SCV000466620 likely benign Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001636988 SCV001850925 benign not provided 2020-12-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23751306)
Breakthrough Genomics, Breakthrough Genomics RCV001636988 SCV005221564 likely benign not provided criteria provided, single submitter not provided

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