Submissions for variant NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=)

gnomAD frequency: 0.99420  dbSNP: rs426298

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082281	SCV000114230	benign	not specified	2013-08-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311728	SCV000846105	benign	Inborn genetic diseases	2015-06-22	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV001618259	SCV001846743	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701590	SCV001933239	benign	Intellectual disability, X-linked syndromic, Turner type	2021-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV001618259	SCV002386220	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082281	SCV000151422	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.