Submissions for variant NM_031407.7(HUWE1):c.6031-4T>A

gnomAD frequency: 0.01245  dbSNP: rs139283158

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224423	SCV000280957	benign	not provided	2015-06-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312139	SCV000847320	benign	Inborn genetic diseases	2014-12-13	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.
Invitae	RCV000224423	SCV001108871	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000224423	SCV001914768	benign	not provided	2021-01-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002477290	SCV002798985	likely benign	Intellectual disability, X-linked syndromic, Turner type	2022-05-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915147	SCV004736195	benign	HUWE1-related condition	2020-04-14	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).
Genetic Services Laboratory, University of Chicago	RCV000117254	SCV000151428	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.