ClinVar Miner

Submissions for variant NM_016222.4(DDX41):c.963G>A (p.Pro321=)

gnomAD frequency: 0.00006  dbSNP: rs200664784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466136 SCV004190946 uncertain significance DDX41-related hematologic malignancy predisposition syndrome 2023-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779008 SCV004633880 likely benign not provided 2024-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV005323439 SCV005989907 likely benign Inborn genetic diseases 2025-02-10 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.

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