Interpretive category | Phenotype applicable | |||||
---|---|---|---|---|---|---|
Yes | No (clearly unrelated) | Reportable secondary finding | Uncertain/possibly | No/little phenotypic evidence available | de novo - No/little phenotypic evidence (chose for variants from de novo filter only) | |
Benign | Do not report | Do not report | Do not report | Do not report | Do not report | Do not report |
Likely benign | Report & Sanger | Do not report | Do not report | Report & Sanger | Report | Report & Sanger |
Intronic-likely benign | Report & Sanger | Do not report | Do not report | Report & Sanger | Do not report | Do not report |
VUS | Report & Sanger | Do not report | Do not report | Report & Sanger | Report | Report & Sanger |
Deleterious VUS (only chose for genes with no/little phenotype evidence) | Error - please change category | Error - please change category | Error - please change category | Error - please change category | Report as VUS | Report as VUS & Sanger |
Likely pathogenic | Report & Sanger | Need discussion | Report as secondary & Sanger | Report & Sanger | Error - please change to Deleterious VUS | Error - please change to Deleterious VUS |
Pathogenic | Report & Sanger | Need discussion | Report as secondary & Sanger | Report & Sanger | Error - please change to Deleterious VUS | Error - please change to Deleterious VUS |
Mapping Error | Investigate further via Sanger | Do not report | Do not report | Need discussion | Do not report | Do not report |
CompoundHet error | Investigate further via Sanger | Do not report | Need discussion | Need discussion | Do not report | Error - not compound het |