Table 3.
Categories of variants of uncertain significance in prenatal microarray performed at UCSF
Category | Number (%) |
---|---|
CNV with OMIM morbid genes | 22 (38.6) |
Likely carrier | 19 (33.3) |
Incomplete penetrance | 7 (12.3) |
Large ROH | 5 (8.8) |
Large size | 3 (5.3) |
Mosaicism | 1 (1.8) |
CNV, copy number variant; ROH, region of homozygosity.