Table 2. Diagnosis for 9 CARDIO patientsa.
Patient | CGC 1 | CGC 2 | CGC 3 | CGC 4 | CGC 5 | CGC 6 | CGC 7 | CGC 8 |
---|---|---|---|---|---|---|---|---|
1 | TNNI3 | TNNI3 | TNNI3 | TNNI3 | TNNI3 | TNNI3 | TNNI3 | TNNI3 |
2 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 |
3 | MYH7 | MYH7 | MYH7 | MYH7 | MYH7 | MYH7 | MYH7 | MYH7 |
4 | − | − | − | − | − | − | MYH7 | − |
5 | LMNA | LMNA | LMNA | LMNA | LMNA | LMNA | LMNA | NA |
6 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 |
7 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 |
8 | PLN | PLN | PLN | PLN | PLN | PLN | PLN | PLN |
9 | GLA | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | MYBPC3 | − |
Each center independently provided a diagnosis for each patient based on the most likely gene mutation. The table cells indicate in which gene the particular center identified the causal variant for the corresponding patient. Discordant diagnoses are indicated in bold. Only one center reported a causal mutation for patient 4. NA, not assessed; ‘−‘, no causal variant reported.