Table 2.
Characteristics of the variants in positive cases
| Type | # of variants (%), N = 6017 |
|---|---|
| SNV/small INDEL | 5384 (89.2) |
| CNV | 587 (9.7) |
| SNV/small INDEL + CNV | 32 (0.5) |
| Others | 31 (0.5) |
| Class | # of variants (%), N = 6017 |
| P | 3432 (57.0) |
| LP | 2537 (42.2) |
| VUSa | 48 (0.8) |
| Occurrence | # of unique variants |
| 1× | 3751 |
| 2× | 433 |
| 3× | 120 |
| 4× | 50 |
| 5× | 33 |
| 6× | 11 |
| 7× | 9 |
| 8× | 8 |
| 9× | 3 |
| 10× | 3 |
| >10× | 20 |
| Previously reportedb | # of variants (%), N = 6017 |
| Yes (known) | 4631 (77.0) |
| No (novel) | 1386 (23.0) |
SNV single nucleotide variant, INDEL insertion-deletion variant, CNV copy number variant, P pathogenic, LP likely pathogenic, VUS variant of uncertain significance, HGMD Human Gene Mutation Database, DECIPHER Database of genomiC varIation and Phenotype in Humans using Ensembl Resources.
a Includes variants in cases with potential dual or triple diagnosis.
bIn ClinVar, HGMD, and/or DECIPHER.