ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.1616-4_1616-3del

dbSNP: rs751868529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658325 SCV000780097 uncertain significance not provided 2021-05-04 criteria provided, single submitter clinical testing In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000658325 SCV004382106 benign not provided 2023-10-09 criteria provided, single submitter clinical testing

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