Table 2.
ACMG criteria used by 33–36 of the 43 laboratories.
| Case # | Gene | Variant | Clinical fit | ACMG concordance in criteria selection (%)a | Number of ACMG criteria used in >50% of laboratories |
|---|---|---|---|---|---|
| 1 | CHEK2 | p.(Ile200Thr)b | Good | 32 | 3 |
| 2 | CACNA1A | p.(Arg1437Gln) | Good | 44 | 2 |
| 3 | ADAMTS18 |
p.(Arg246Ter) p.(Arg573Pro) |
Excellent |
72 50 |
2 2 |
| 4 | HUWE1 | p.(Glu4315Lys) | Good | 50 | 3 |
| 5 | COL5A1 | p.(Thr915Met) | Good | 37 | 1 |
| 8 | PTPN11 | p.(Gly268Ser) | Poor | 63 | 4 |
| 9 | TNFRSF1A | p.(Arg121Gln)b | Moderate | 37 | 2 |
| 10 | ABCA4 | p.(Asn1868Ile)b | Excellent | 27 | 0 |
aCriteria selected by less than 10% of the laboratories (3 or less) were excluded from the calculation.
bKnown low-penetrant variant/hypomorphic allele.
Concordance rates were calculated as number of laboratories that selected a given criterium divided by the number of laboratories that responded, see Supplementary File 3 for details and calculations.