VariantPulseEvidence monitor liveADr. A. Kassim, open settings
VariantPulseMonitoring genetic knowledge
VariantPulse continuously monitors genetic findings and detects when new scientific evidence changes what they mean.
VUS
As reported
Likely pathogenic
Multiple submitters, no conflicts
BRCA1 c.5522G>T — evidence last evaluated 6 Nov 2025.
11 records on file carry a variant whose interpretation has moved, and may require clinical review.
Every item below opens a clinical review case. None of them changes a record.
Hereditary breast and ovarian cancer
Uncertain significance
As reported
Likely pathogenic
Multiple submitters, no conflicts
Familial hypercholesterolaemia
Uncertain significance
As reported
Likely benign
Reviewed by expert panel
Hereditary hyperekplexia
Uncertain significance
As reported
Benign
Multiple submitters, no conflicts
Li-Fraumeni syndrome
Likely pathogenic
As reported
Pathogenic
Multiple submitters, no conflicts
BRCA1 c.5522G>T — the DNA is unchanged. The evidence around it is not.
Global consensus and regional evidence reach different conclusions. Neither is ranked above the other.
Hereditary hyperekplexia
Uncertain significance
As reported
Benign
Multiple submitters, no conflicts
Familial hypercholesterolaemia
Uncertain significance
As reported
Likely benign
Reviewed by expert panel