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. 2020 Nov 5;10:19142. doi: 10.1038/s41598-020-76245-5

Table 1.

Summary of ClinVar annotations for the NIPT call set.

ClinVar clinical significance In KHV Not in KHV
Benign or likely benign 23,414 300
Uncertain significance 353 74
Pathogenic or likely pathogenic 4 1
Drug response 114 3
Others 211 13
Total number of annotations 24,096 391