ClinVar Miner

Variants studied for Epicanthus; Ebstein anomaly of the tricuspid valve; Congenital ectopic pupil; Atrial septal defect; Motor delay; Visual impairment; Long palpebral fissure; Secundum atrial septal defect; Mandibular prognathia; Broad forehead; Cyanosis; Premature birth; Shawl scrotum; Short neck; Short nose; Anterior synechiae; Square face; Long philtrum; Sclerocornea; Pulmonary artery stenosis; Respiratory failure requiring assisted ventilation; Corneal opacity; Prominent forehead; Mild global developmental delay; Generalized opacification of the cornea; Chin with horizontal crease; Wide nasal base

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
​intergenic 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter uncertain significance total
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 1

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