ClinVar Miner

Submissions for variant NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) (rs1057518707)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000414932 SCV000746867 likely pathogenic Mental retardation, X-linked 102 2017-12-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000414932 SCV000328816 pathogenic Mental retardation, X-linked 102 2016-05-01 no assertion criteria provided clinical testing Our laboratory has reported dual molecular diagnoses in COL7A1 (NM_000094.3:c.6900+4A>G) and DDX3X (NM_001356.3:c.1052G>A) in an individual with microcephaly, delayed motor milestones, delayed speech, hypotonia, hyperreflexia, repetitive behaviors, dysmorphic features, mild conductive hearing loss, mild epidermolysis bullosa (EB) and a history of prematurity and genital anomalies.

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