Table 3 CNVoyant predictions for six diagnostic CNVs observed in the clinical setting. Displayed are CNVoyant predictions for six diagnostic CNVs identified in five patients. Each row corresponds to a CNV and provides the following information; Patient: the de-identified identifier for each patient; Diagnostic CNV: the chromosomal location (GRCh38) and type of CNV (deletion or duplication); CNV Pathogenic Rank: the prioritized rank assigned to the CNV among all of the patient’s CNVs, sorted by pathogenic probability; Prediction (Probability): CNVoyant probability predictions for the CNV being of benign, uncertain (VUS), or pathogenic clinical significance. The highest class prediction is indicated in bold on a per-variant basis.
Patient | Diagnostic CNV | CNV pathogenic rank | Prediction (probability) | ||
|---|---|---|---|---|---|
Benign | VUS | Pathogenic | |||
1 | chr22 : 20,327,301–21,112,300 (Deletion) | 1 | 0.008 | 0.063 | 0.928 |
2 | chr5 : 176,119,001–178,006,400 (Deletion) | 1 | 0.010 | 0.011 | 0.979 |
3 | chr10 : 48,125,369–50,707,368 (Deletion) | 1 | 0.011 | 0.182 | 0.806 |
4 | chr22 : 43,274,001–50,780,900 (Deletion) | 1 | 0.002 | 0.005 | 0.994 |
chr4 : 86,599,601–88,823,600 (Deletion) | 2 | 0.015 | 0.112 | 0.874 | |
5 | chrX : 150,194,201–155,699,000 (Duplication) | 1 | 0.011 | 0.010 | 0.979 |
