Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The variant allele was found at a frequency of 0.682 in 151824 control chromosomes in the gnomAD Genomes database, including 35543 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Verdict is Benign. Variant got -10 ACMG points.
GnomAD3 genomes AF: 0.682AC: 103504AN: 151824Hom.: 35543Cov.: 31
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at