Table 2 Outcomes of accredited genetic testing (n = 440); ACMG grading: Grade 5- pathogenic; Grade 4- likely pathogenic; Grade 3 -VUS
n = | % | |
|---|---|---|
Grade 4 or 5 | 274 | 62.3 |
Grade 3 only | 34 | 7.7 |
1 allele grade 3 and 1 allele grade 4/5 (AR disease) | 17 | 3.9 |
No variants detected | 19 | 4.3 |
Unclassified (regrading) | 94 | 21.4 |
Benign | 2 | 0.5 |
Total | 440 |