Table 2:
Actionable incidental findings variants identified incidentally in ≥5 participants.
| Gene | DNA change | Protein consequence | Interpre-tation | Participant count | rsID | ClinVar Variant ID |
|---|---|---|---|---|---|---|
| BRCA2 | c.5946del | p.Ser1982Argfs*22 | P | 17 | rs80359550 | 9325 |
| MYBPC3 | c.3628-41_3628-17del | splice | LP | 13 | rs36212066 | 177677 |
| APOB | c.10580G>A | p.Arg3527Gln | P | 12 | rs5742904 | 17890 |
| BRCA1 | c.68_69del | p.Glu23Valfs*17 | P | 9 | rs80357914 | 17662 |
| RET | c.2410G>A | p.Val804Met | P | 7 | rs79658334 | 37102 |
| KCNQ1 | c.1085A>G | p.Lys362Arg | LP | 6 | rs12720458 | 52953 |
| MYBPC3 | c.1504C>T | p.Arg502Trp | P | 6 | rs375882485 | 42540 |
| PMS2 | c.137G>T | p.Ser46Ile | P | 5 | rs121434629 | 9245 |
| RYR1 | c.1840C>T | p.Arg614Cys | LP/P† | 5 | rs118192172 | 12964 |
| PKP2 | c.2146-1G-C | splice | P | 5 | rs193922674 | 6756 |
†
Sequencing centers differ in their interpretation of this variant