ClinVar Miner

Submissions for variant NM_016222.4(DDX41):c.1650G>A (p.Ala550=)

gnomAD frequency: 0.00001  dbSNP: rs747056004
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819526 SCV002068607 uncertain significance not specified 2019-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003728024 SCV004539321 likely benign not provided 2023-09-19 criteria provided, single submitter clinical testing

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