ClinVar Miner

Submissions for variant NM_002303.6(LEPR):c.3024A>G (p.Ser1008=)

gnomAD frequency: 0.01632  dbSNP: rs6413506
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974844 SCV001122712 benign not provided 2023-11-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001102137 SCV001258789 likely benign Obesity due to leptin receptor gene deficiency 2017-12-07 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000974844 SCV001950950 benign not provided 2019-04-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000974844 SCV005258560 likely benign not provided criteria provided, single submitter not provided

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