Submissions for variant NM_016222.4(DDX41):c.1470C>T (p.Asp490=)

gnomAD frequency: 0.00096  dbSNP: rs151018711

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV001820243	SCV002064582	likely benign	not specified	2021-08-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002542596	SCV003269786	benign	not provided	2025-01-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004980716	SCV005563822	likely benign	Inborn genetic diseases	2024-08-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences	RCV003941158	SCV004749058	likely benign	DDX41-related disorder	2019-06-04	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).