Phenotype annotation format Database Number of MECP2 or RTT variations Number of variations meeting annotation criteria Number of variations with sufficient genetic annotation Number of variations with sufficient genetic annotation Number of variations with sufficient genetic annotation Number of variations with sufficient genetic annotation
Using Mutalyzer Using Mutalyzer After manual curation After manual curation
# % # %
Phenotype DECIPHER 34 25 25 100 25 100
Diagnosis Maastricht Rett dataset 429 428 388 90.7 393 91.8
ClinVar 1,134 743 681 91.7 726 97.7
RettBase 4,705 3,986 3,798 95.3 3,980 99.8
KMD 35 35 35 100 35 100
Pathogencity scores EVS 190 190 190 100 190 100
LOVD 808 808 738 91.3 804 99.5
EVA 4,226 4,226 4,193 99.2 4216 99.8
ExAC 599 599 559 93.3 599 100
TOTAL TOTAL 12,158 11,040 10,607 average 95.7% 10,968 average 98.7%