GET-Evidence: Sufficiently vs. Insufficiently Evaluated Classification

Sufficiently vs. Insufficiently Evaluated Classification

Variants in GET-Evidence will not be listed in the main part of a genome report unless they are considered “sufficiently evaluated”. Otherwise, they are listed in the “insufficiently evaluated” variants report, sorted by prioritization score.

For a variant to be sufficiently evaluated, it needs to have variant impact scores evaluated such that it can be automatically ranked in the genome report.

Criteria for “Sufficiently Evaluated”

Variant evidence scores

At least one of either “Case/control” OR “Familial” scores must be recorded.

Note that a score of zero is acceptable (i.e. if there is no significant evidence in the category). For example, a variant only once observed in a single child — lacking both case/control and familial segregation data — could score zero points in both categories.

Clinical impact scores

For “benign” variants, no scores need to be recorded for this section.

For other variants, both “Severity” AND “Penetrance” must be recorded.

Gene search

"GENE" or "GENE A123C":

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