ClinVar Miner

Submissions for variant NM_138615.3(DHX30):c.1685A>G (p.His562Arg) (rs1060499733)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454247 SCV000537905 pathogenic Global developmental delay; Hearing impairment; Sleep disturbance; Muscular hypotonia of the trunk; Delayed speech and language development; Microcephaly; Strabismus criteria provided, single submitter research This variant was identified as de novo in an individual with developmental delay, speech delay, sleep disturbance, microcephaly, truncal and orofacial hypotonia, strabismus on the right, hyperopia, and bilateral hearing loss.
OMIM RCV000544652 SCV000622122 pathogenic Neurodevelopmental disorder with severe motor impairment and absent language 2020-07-14 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003584 SCV001161961 likely pathogenic Autistic disorder of childhood onset; Intellectual disability; Abnormality of the cerebral white matter no assertion criteria provided research

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