ClinVar Miner

Submissions for variant NM_021946.4(BCORL1):c.532A>G (p.Thr178Ala)

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Total submissions: 1
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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 RCV000735323 SCV000854476 uncertain significance Autistic disorder of childhood onset; Global developmental delay; Autistic behavior; Micrognathia; Abnormality of the corpus callosum; Nystagmus; Stereotypy; Hypoplasia of the corpus callosum; Abnormality of the pinna; Delayed speech and language development; Downslanted palpebral fissures; Proximal placement of thumb; Speech apraxia; Wide intermamillary distance; Microcephaly; Facial hypotonia; Generalized hypotonia; Abnormality of the cerebral white matter; Downturned corners of mouth; Long toe; Moderate global developmental delay; Cerebral white matter hypoplasia; Long fingers criteria provided, single submitter clinical testing

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