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Table 2 Outcomes of accredited genetic testing (n = 440); ACMG grading: Grade 5- pathogenic; Grade 4- likely pathogenic; Grade 3 -VUS

From: Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

  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