ClinVar Miner

Submissions for variant NM_001003679.3(LEPR):c.1029T>C (p.Ser343=) (rs1805134)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000288988 SCV000358809 likely benign Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346307 SCV000358810 likely benign Leptin receptor deficiency 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712215 SCV000842653 benign not provided 2017-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000712215 SCV001882510 benign not provided 2018-08-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 9175732, 11380591, 12646666)
Clinical Genetics,Academic Medical Center RCV001699346 SCV001922003 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699346 SCV001926643 benign not specified no assertion criteria provided clinical testing

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