TABLE 3.
Summary of detected genetic variants and variant classification by gene
| Total | MLH1 | MSH2 | MSH6 | PMS2 | EPCAM | APC | MUTYH | BMPR1A | POLE | POLD1 | SMAD4 | STK11 | GALNT12 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| All DV a | 112 | 20 | 28 | 15 | 11 b | 1 | 12 | 24 | 1 c | |||||
| All VUS d | 129 | 11 | 10 | 20 | 13 | 2 | 33 | 6 | 5 | 15 | 7 | 3 | 2 | 2 |
| VUS reclassified as LB e | 59 | 4 | 4 | 5 | 8 | 2 | 9 | 6 | 14 | 5 | 2 | |||
| VUS reclassified as DV | 2 | 1 | 1 | |||||||||||
| DV reclassified as VUS | 1 | 1 c |
a
Disease‐causing variant.
b
Including two biallelic variants.
c
Present in patient with disease‐causing variant in EPCAM.
d
Variant of uncertain clinical significance.
e
Likely benign variant.