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|Disease||Tetralogy of Fallot, Atrial septal defect 7 with or without atrioventricular conduction defects, Congenital heart disease|
|CLNDBN||Tetralogy of Fallot, Atrial septal defect 7 with or without atrioventricular conduction defects, Congenital heart disease|
|CLNSRC||OMIM Allelic Variant|
|qualified_impact||Low clinical importance, Uncertain benign|
|summary||Probably nonpathogenic. Reported in a single case of tetralogy of fallot (a congenital heart defect), although an unaffected mother and grandmother were also carriers. A later study also found the variant in an affected family, but the variant did not segregate with disease (other affected family members were *not* carriers) -- they conclude that it is probably a nonpathogenic polymorphism.|