ClinVar Miner

Submissions for variant NM_138615.3(DHX30):c.1478G>A (p.Arg493His)

dbSNP: rs1057519436
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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 RCV000416420 SCV000494158 pathogenic Seizure; Short stature; Unsteady gait; Microcephaly; Strabismus; Oculomotor apraxia no assertion criteria provided research This variant was identified as de novo in an individual with seizures, microcephaly, short stature, strabismus, oculomotor apraxia, unsteady gait.
OMIM RCV000532178 SCV000622121 pathogenic Neurodevelopmental disorder with severe motor impairment and absent language 2023-02-27 no assertion criteria provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV002251742 SCV002522454 pathogenic not provided no assertion criteria provided clinical testing

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