ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.426A>C (p.Pro142=)

gnomAD frequency: 0.00010  dbSNP: rs779721240
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001544729 SCV001763913 likely benign not provided 2021-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001544729 SCV002344443 likely benign not provided 2024-08-24 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV001544729 SCV002501661 uncertain significance not provided 2021-07-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329663 SCV002631696 likely benign Inborn genetic diseases 2018-09-22 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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