Submissions for variant NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=)

gnomAD frequency: 0.00095  dbSNP: rs142126065

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724383	SCV000229565	uncertain significance	not provided	2015-01-22	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000177663	SCV000595208	benign	not specified	2017-05-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000724383	SCV001029644	benign	not provided	2023-12-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000724383	SCV001836476	benign	not provided	2021-01-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453633	SCV002613502	benign	Inborn genetic diseases	2018-04-24	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000724383	SCV001740761	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724383	SCV001927712	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724383	SCV001968174	likely benign	not provided		no assertion criteria provided	clinical testing