ClinVar Miner

Submissions for variant NM_016222.4(DDX41):c.*3C>T

gnomAD frequency: 0.00886  dbSNP: rs73804364
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001559753 SCV001782047 likely benign not provided 2022-04-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genetic Services Laboratory, University of Chicago RCV001821887 SCV002068563 benign not specified 2020-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003931186 SCV004743209 benign DDX41-related disorder 2019-06-19 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).
Breakthrough Genomics, Breakthrough Genomics RCV001559753 SCV005222580 likely benign not provided criteria provided, single submitter not provided

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