Table 1.
Sanger sequencing result is compared with the VarBin variant classification Bin
| Bin | Sanger result | Total* | SNV | Indel |
|---|---|---|---|---|
| Bin 1 | true | 33 | 23 | 10 |
| false | 1 | 1 | - | |
| Bin 2 | true | 10 | 8 | 2 |
| false | 23 | 21 | 2 | |
| Bin 3 | true | - | - | - |
| false | 16 | 16 | - | |
| Bin 4 | true | - | - | - |
| false | 11 | 11 | - |
*98 variants were sequenced in the proband, the proband's family, or other families in the background data sets as stated in the methods. Four of the 98 could not be Sanger sequenced and were excluded from this table (94 total variants shown). SNV, single nucleotide variant; Indel, and insertion or deletion.