ClinVar Miner

Variants studied for 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

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
0 0 1 0 0 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination uncertain significance total
BCORL1 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter uncertain significance total
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 1

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