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Table 3 Previously undiagnosed cases with potential leads. Cases with hits with a GEM gene score BF > 1.5. Zygo zygosity, Hom homozygous, Het heterozygous, Dup large duplication

From: Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Case

Pedigree

Sex

Assay

Rank

Chr

Gene

Variant Type

Variant ACMG

De novo

Zygo

GEM score

Mode of inheritance

MIM ID(s)

CM score(s)

244799

Single

Male

WGS

1

14

SRP54

SNV

Uncertain significance

Likely

Het

1.76

Dominant

618752, 260400

0.672, 0.893

245237

Trio

Male

WGS

2

X

GK

SNV

VUS

Yes

Het

1.60

X-linked recessive

307030

1.119

245237

Trio

Male

WGS

3

16

FANCA

SNV

VUS

No

Hom

1.55

Recessive

227650

1.315

245768

Single

Male

WGS

1

16

TSC2

Dup

VUS

Likely

Het

1.64

Dominant

N/A

N/A

247458

Single

Male

WGS

1

1

SLC25A24

SNV

VUS

Likely

Het

1.86

Dominant

612289

1.995

247963

Trio

Female

WGS

1

X

STAG2

SNV

Likely pathogenic

Yes

Het

1.53

X-linked dominant

301022

1.25