ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) (rs587784105)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735337 SCV000854491 pathogenic Autistic disorder of childhood onset; Cryptorchidism; Hypertelorism; Cleft uvula; Seizures; Cognitive impairment; Scoliosis; Patent foramen ovale; Prominent supraorbital ridges; Hypermetropia; Disproportionate tall stature; Pectus carinatum; Highly arched eyebrow; Overfolding of the superior helices; Talipes valgus; Chronic lung disease; Midface retrusion; Cleft palate criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146818 SCV000194146 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing

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