ClinVar Miner

Submissions for variant NM_030653.4(DDX11):c.2638dup (p.Ala880fs)

gnomAD frequency: 0.00007  dbSNP: rs774867268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001556740 SCV001778374 likely pathogenic not provided 2024-02-16 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 27 amino acids are replaced with 93 different amino acids; This variant is associated with the following publications: (PMID: 30214071, 30216658)
Fulgent Genetics, Fulgent Genetics RCV005005962 SCV005635005 likely pathogenic Warsaw breakage syndrome 2024-05-30 criteria provided, single submitter clinical testing

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