| . | Patients . | Families . | Variants . | |
|---|---|---|---|---|
| TOTAL | 387 | 295 | 154 | |
| This study | P/LP, n (%) | 319 (82.4) | 244 (82.7) | 109 (70.8) |
| VUS/conflicting, n (%) | 65 (16.8) | 48 (16.3) | 42 (27.3) | |
| Benign/likely benign, n (%) | 3 (0.8) | 3 (1.0) | 3 (1.9) | |
| ClinVar | P/LP, n (%) | 249 (74.6) | 191 (74.6) | 68 (58.1) |
| VUS/conflicting, n (%) | 85 (25.4) | 65 (25.4) | 49 (41.9) | |
| Benign/likely benign, n (%) | 0 | 0 | 0 | |
| No ClinVar entry, n | 53 | 39 | 37 | |
| . | Patients . | Families . | Variants . | |
|---|---|---|---|---|
| TOTAL | 387 | 295 | 154 | |
| This study | P/LP, n (%) | 319 (82.4) | 244 (82.7) | 109 (70.8) |
| VUS/conflicting, n (%) | 65 (16.8) | 48 (16.3) | 42 (27.3) | |
| Benign/likely benign, n (%) | 3 (0.8) | 3 (1.0) | 3 (1.9) | |
| ClinVar | P/LP, n (%) | 249 (74.6) | 191 (74.6) | 68 (58.1) |
| VUS/conflicting, n (%) | 85 (25.4) | 65 (25.4) | 49 (41.9) | |
| Benign/likely benign, n (%) | 0 | 0 | 0 | |
| No ClinVar entry, n | 53 | 39 | 37 | |
Denominator for ClinVar percentages is the sum of variants with a ClinVar entry. n = number of individuals/families/variants; P/LP = pathogenic/likely pathogenic; VUS = variant of uncertain significance.
| . | Patients . | Families . | Variants . | |
|---|---|---|---|---|
| TOTAL | 387 | 295 | 154 | |
| This study | P/LP, n (%) | 319 (82.4) | 244 (82.7) | 109 (70.8) |
| VUS/conflicting, n (%) | 65 (16.8) | 48 (16.3) | 42 (27.3) | |
| Benign/likely benign, n (%) | 3 (0.8) | 3 (1.0) | 3 (1.9) | |
| ClinVar | P/LP, n (%) | 249 (74.6) | 191 (74.6) | 68 (58.1) |
| VUS/conflicting, n (%) | 85 (25.4) | 65 (25.4) | 49 (41.9) | |
| Benign/likely benign, n (%) | 0 | 0 | 0 | |
| No ClinVar entry, n | 53 | 39 | 37 | |
| . | Patients . | Families . | Variants . | |
|---|---|---|---|---|
| TOTAL | 387 | 295 | 154 | |
| This study | P/LP, n (%) | 319 (82.4) | 244 (82.7) | 109 (70.8) |
| VUS/conflicting, n (%) | 65 (16.8) | 48 (16.3) | 42 (27.3) | |
| Benign/likely benign, n (%) | 3 (0.8) | 3 (1.0) | 3 (1.9) | |
| ClinVar | P/LP, n (%) | 249 (74.6) | 191 (74.6) | 68 (58.1) |
| VUS/conflicting, n (%) | 85 (25.4) | 65 (25.4) | 49 (41.9) | |
| Benign/likely benign, n (%) | 0 | 0 | 0 | |
| No ClinVar entry, n | 53 | 39 | 37 | |
Denominator for ClinVar percentages is the sum of variants with a ClinVar entry. n = number of individuals/families/variants; P/LP = pathogenic/likely pathogenic; VUS = variant of uncertain significance.
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