Submissions for variant NM_001127671.2(LIFR):c.143-37GT[16]

dbSNP: rs10637374

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001510701	SCV001717806	benign	not provided	2024-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001510701	SCV001828255	benign	not provided	2019-10-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV002501755	SCV002058031	benign	Stüve-Wiedemann syndrome 1	2023-10-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276750	SCV002566883	benign	Connective tissue disorder	2022-06-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002501755	SCV002807630	benign	Stüve-Wiedemann syndrome 1	2021-10-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003980474	SCV004796040	benign	LIFR-related disorder	2019-04-08	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV001810049	SCV002084279	benign	Stuve-Wiedemann syndrome	2019-09-27	no assertion criteria provided	clinical testing