Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_017774.3(CDKAL1):c.371+11642G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Genome browser will be placed here
Verdict is Likely_benign. Variant got -4 ACMG points.
GnomAD3 genomes AF: 0.00AC: 0AN: 151766Hom.: 0Cov.: 31 FAILED QC
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at