Submissions for variant NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys)

gnomAD frequency: 0.00020  dbSNP: rs145651189

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000348481	SCV000358827	uncertain significance	Obesity due to leptin receptor gene deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000405881	SCV000358828	uncertain significance	Monogenic Non-Syndromic Obesity	2016-06-14	criteria provided, single submitter	clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000664073	SCV000787525	likely benign	Monogenic diabetes	2017-06-01	criteria provided, single submitter	research	ACMG Criteria:PP3 (3 predictors), BP4 (7 predictors), BS2 (4 homozygotes in South Asian in ExAC, 35 cases and 40 controls in type2diabetesgenetics.org), BP5 (found in case with GCK pathogenic variant)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001699347	SCV002354380	benign	not provided	2023-11-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001699347	SCV002504653	likely benign	not provided	2020-12-22	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Clinical Genetics, Academic Medical Center	RCV001699347	SCV001922025	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702416	SCV001931254	benign	not specified		no assertion criteria provided	clinical testing