VariantPulseEvidence monitor liveADr. A. Kassim, open settings
VariantPulseSubmitters no longer agree on how this variant should be classified.
Uncertain significance
As reported
Conflicting classifications
Conflicting submissions
Synthetic record. No identifiers in this workspace correspond to a real person.
Missense change identified during Lynch syndrome screening. Mismatch repair assay not performed.
Read from ClinVar at the last evidence sync.
Submitters no longer agree on MSH2 c.1006C>G. The 2023 report recorded uncertain significance, and current submissions are split rather than resolving to a single classification. A conflicting record is not the same as a benign one, and it is not the same as a pathogenic one. One record on file carries this variant and has not yet been reassessed.
Composed from the structured fields of the records cited on this page. Requires clinical verification before it informs any decision.
Global
Read from ClinVar, which aggregates submissions dominated by European-ancestry cohorts.
Regional
Modelled regional aggregation maintained inside this workspace.
VariantPulse analysis
Both sources place this variant in the same band, so there is no divergence to resolve. Regional observations remain uncertain. This does not resolve the disagreement among global submitters, but it does not add to it either.
MSH2 c.1006C>G — the DNA is unchanged. The evidence around it is not.