Table 1.

Result of variant classification: average grading and percentage of variant reporting.

Case #	Gene	Varianta	Clinical fit with variant	ACMGb grade	ABC-Ac grade	ABC-Bc grade	% reported after ACMG Incl maybe	% reported after ACMG excl maybe	% reported after ABC
1	CHEK2	p.(Ile200Thr)	Good	3,5 - VUS	4,3 - LFE	2,3 - RF	83	71	91
2	CACNA1A	p.(Arg1437Gln)	Good	3,2 - VUS	3,1 - HFE	1,9 - RF	95	81	95
3	ADAMTS18	p.(Arg246Ter) p.(Arg573Pro)	Excellent	4,3 - LP 3,3 - VUS	4,4 - LFE 3,1 - HFE	3,1 - P 2,0 - RF	95	95	100
4	HUWE1	p.(Glu4315Lys)	Good	3,3 - VUS	3,4 - HFE	1,9- RF	95	74	100
5	COL5A1	Thr915Met	Good	2,9 - VUS	2,6 - HFE	1,5 - VOI	80	54	79
6	Deletion of ANK2	1 Mb de novo deletion	? Normal fetus	3,8 - LP	3,6 - LFE	0,8 - VOI	67	57	65
7	Duplication of 16p11.2	227 kb duplication	Moderate	3,1 - VUS	3,0 - HFE	1,5 - VOI	71	60	79
8	PTPN11	p.(Gly268Ser)	Poor	4,2 - LP	3,9 - LFE	1,2 - VOI	64	50	67
9	TNFRSF1A	p.(Arg121Gln)	Moderate	2,6 - VUS	3,1 - HFE	2,0 - RF	64	40	81
10	ABCA4	p.(Asn1868Ile)	Excellent	2,7 - VUS	3,6 - LFE	1,8 - RF	67	50	86

LP likely pathogenic, VUS variant of unknown significance, LFE likely functional effect, HFE hypothetical functional effect, RF risk factor, VOI variant of interest, P pathogenic.

^aFor variant details, see Supplementary File S1.

^bThe ACMG grades are the average of the grades given by all participating laboratories, see Supplementary File S2 for details. Please note that to be able to calculate this, ACMG classes were converted to numbers: P = 5, LP = 4, VUS = 3, LB = 2 and B = 1.

^cABC grades are the average of ABC-A and ABC-B grading, see Supplementary File S2 for details.