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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