ClinVar Miner

Submissions for variant NM_030653.4(DDX11):c.1657C>G (p.Gln553Glu)

gnomAD frequency: 0.00001  dbSNP: rs535328861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000903316 SCV001047777 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000903316 SCV001799075 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000903316 SCV001972342 likely benign not provided no assertion criteria provided clinical testing

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