Table 2 A list of variants that were reclassified to actionable.

From: Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study

Gene

Variant

Neutral result returned to participant?

Time between neutral report and reclassification (days)

MSH2a

Deletion exons 4–6

Yes

529

MSH2a

Deletion exons 1–3

Yes

603

BRCA1a

Deletion exons 13–15

No

38

CHEK2

Deletion exons 1–15

Yes

603

BRCA2b

Deletion exons 1–27

Yes

605

RB1b

Deletion exons 1–27

  

F5

Homozygous c.1601G>A

Yes

321

  1. aParticipant had result documented in the EHR before study related return of results.
  2. bTwo reclassified variants in a single participant.
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