ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.1127G>A (p.Arg376His)

dbSNP: rs2063908570
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001093534 SCV001250582 pathogenic Intellectual disability, X-linked 102 2015-08-06 no assertion criteria provided literature only
GeneReviews RCV001093534 SCV002098138 not provided Intellectual disability, X-linked 102 no assertion provided literature only Observed in affected males w/de novo occurrence [Wang et al 2018, Nicola et al 2019]

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