ClinVar Miner

Submissions for variant NM_001356.4(DDX3X):c.1703C>T (p.Pro568Leu) (rs1057519430)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622529 SCV000742815 pathogenic Inborn genetic diseases 2017-07-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093496 SCV001250518 pathogenic not provided 2017-03-01 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000416455 SCV000494151 pathogenic Mental retardation, X-linked 102 no assertion criteria provided research This variant was identified, de novo, in an individual with developmental delay, intellectual disability, microcephaly, cortical visual impairment, delayed myelination on brain imaging, short stature and hypotonia.

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