Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PM2_SupportingBP4_Strong
The variant was absent in control chromosomes in GnomAD Genomes project. 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 Likely_benign. Variant got -3 ACMG points.
GnomAD3 genomesCov.: 29
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at