ClinVar Miner

Submissions for variant NM_001193416.3(DDX3X):c.1600C>T (p.Arg534Cys) (rs1555954284)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000625959 SCV000746557 likely pathogenic Mental retardation, X-linked 102 2016-09-22 criteria provided, single submitter clinical testing Likely pathogenicity based on finding this de novo in a 47-year-old female with developmental delay, renal agenesis, dysmorphic facies, paraparesis, bruxism, sialorrhea, and polymicrogyria. Additionally, an allelic variant p.R534H has been reported in a patient with intellectual disability (PMID: 26235985). This individual has been reported in PMID: 30349862 (female 13).
Fulgent Genetics,Fulgent Genetics RCV000625959 SCV000894490 likely pathogenic Mental retardation, X-linked 102 2018-10-31 criteria provided, single submitter clinical testing

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