Submissions for variant NM_002303.6(LEPR):c.1029T>C (p.Ser343=)

gnomAD frequency: 0.23693  dbSNP: rs1805134

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000288988	SCV000358809	likely benign	Monogenic Non-Syndromic Obesity	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000346307	SCV000358810	likely benign	Obesity due to leptin receptor gene deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	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)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000712215	SCV002416584	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000712215	SCV005258554	likely benign	not provided		criteria provided, single submitter	not provided
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