Table 1 Concordance of variants reported clinically in diagnostic WGS of 25 blood samples and WGS from 63 manufactured DBS.

1

Proband

FOXP3, c.1010G>A, p.Arg337Gln

P

2

3

Y

2

Proband

None

None

1

2

3

Proband

Chr22:23961084-24401339del

P

1

2

Y

4

Father

None

None

2

2

5

Sibling

FLNA, c.2410G>A, p.Val804Ile

VUS

1

2

Y

6

Proband

FLNA, c.2410G>A p.Val804Ile; Chr2:112658998-112854380dup

VUS

1

2

Y

7

Proband

DCLRE1C, c.406G>A, p.Asp136Asn; Chr10:14983601-15065700del

LP, P

1

2

Y

8

Proband

RYR2, c.12290A>G, p.Asn4097Ser; ANK2,c.8404G>C, p.Asp2802His

VUS

1

1

Y

9

Father

RYR2, c.12290A>G, p.Asn4097Ser; ANK2,c.8404G>C, p.Asp2802His

VUS

1

1

Y

10

Proband

SMN1 Chr5:70247540-70247820x0 del; SMN2 Chr5:69372123-69372400dup

P

2

3

Y

11

Proband

TUBB3, c.1228G>A, p.Glu410Lys; Chr22:18873501-21466000del

P

3

3

Y

12

Proband

ROBO1, c.107G>T, p.Arg36Met; ROBO1, c.4610G>A, p.Gly1537Glu

VUS

1

2

Y

13

Proband

PROKR2, c.563C>T, p.Ser188Leu; Chr14:59001701-61049600dup

VUS

2

2

Y

14

Proband

HSD17B4, c.1619A>G, p.His540Arg

VUS

1

2

Y

15

Proband

None

None

1

1

16

Proband

None

None

1

17

Proband

None

None

1

18

Proband

EPG5, c.2066del, p.Leu689Ter

P

1

1

Y

19

Proband

EPG5, c.2066del, p.Leu689Ter

P

1

1

Y

20

Proband

None

None

1

21

Proband

Chr15:23512201-28700800del

P

1

Y

22

Proband

Chr10:81634801-89151100 del

P

1

Y

23

Proband

Chr2:21240919-21244369del

P

1

Y

24

Proband

ChrX:1422154-1423912del

P

1

Y

25

Proband

SMN1 Chr5:70247540-70247820x0del; SMN2 Chr5:69372122-69372400x2 dup

P

1

Y