ClinVar Miner

Submissions for variant NM_030653.4(DDX11):c.1699C>G (p.Gln567Glu)

gnomAD frequency: 0.52892  dbSNP: rs2075322
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988802 SCV001138666 benign Warsaw breakage syndrome 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000988802 SCV001876614 benign Warsaw breakage syndrome 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707522 SCV005236908 benign not provided criteria provided, single submitter not provided

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