Submissions for variant NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)

gnomAD frequency: 0.00107  dbSNP: rs139848756

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175034	SCV000226459	uncertain significance	not provided	2015-05-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000313983	SCV000457585	uncertain significance	Stuve-Wiedemann syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000175034	SCV001068861	likely benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003761801	SCV001473164	likely benign	Stüve-Wiedemann syndrome 1	2023-10-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000175034	SCV001767246	likely benign	not provided	2019-05-23	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277348	SCV002566894	uncertain significance	Connective tissue disorder	2021-04-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000175034	SCV004160934	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	LIFR: BP4
Natera, Inc.	RCV000313983	SCV001465398	benign	Stuve-Wiedemann syndrome	2020-04-03	no assertion criteria provided	clinical testing