VariantPulseEvidence monitor liveADr. A. Kassim, open settings
VariantPulseThe interpretation moved across the clinically actionable boundary since this result was reported.
2023 · On file
Conflicting classifications
Reported 14 Feb 2023
Today · ClinVar
Pathogenic
ClinVar last evaluated 6 Mar 2026 · Multiple submitters, no conflicts
The changed variant and every historical record that carries it. Select a record to see its detail.
Changed variant
HBB
c.364G>C
ConflictingPathogenic
VP-10701
Not reviewed25-34 · Haematology
Since the 2023 report, the consensus for HBB c.364G>C has moved from conflicting classifications to pathogenic. That reading rests on 23 submissions at moderate review confidence, multiple submitters, no conflicts. That crosses the clinically actionable boundary, so management guidance issued on the original interpretation may no longer be the right guidance. 2 records on file carry this variant and have not yet been reassessed.
Composed from the structured fields of the records cited on this page. Requires clinical verification before it informs any decision.
Each source is shown as it reports itself. VariantPulse does not merge them into a single verdict.
| Source | Classification | Review level | Last updated | Strength | |
|---|---|---|---|---|---|
| ClinVar23 submissions on record. | Pathogenic | Multiple submitters, no conflicts | 6 Mar 2026 | Moderate2 of 4 review criteria met | VCV000015152 |
| Population frequencyHighest reported allele frequency carried on the source record. | 0.00060 | 1000 Genomes Project | 6 Mar 2026 | Reference observation | |
| LiteraturePublications linked to this variant record. | 8 indexed publications | PubMed index | Latest 2021 | Supporting context | |
| Regional Evidence IndexModelled regional aggregation maintained inside this workspace | Pathogenic | 11 regional observations | 25 Sept 2026 | Cohort 3,031 | |
| This institutionThe interpretation issued to the patient at the time of testing. | Conflicting classifications | Internal report | 14 Feb 2023 | On record |
Cited publications
Global · ClinVar
Pathogeniccriteria provided, multiple submitters, no conflicts · Last evaluated 6 Mar 2026
Regional · Regional Evidence Index
Pathogenic11 observations in 3,031 · updated 25 Sept 2026
Sources consistent
Both lanes fall in the same clinical band.
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. Haemoglobin D-Punjab. CTGA records it in UAE patients as likely pathogenic / pathogenic for sickle cell disease and beta-thalassaemia, and it is about four times more frequent in gnomAD's Middle Eastern group than globally. Global ClinVar submitters were still in conflict in January 2023 and only converged on pathogenic / likely pathogenic in March 2026: regional evidence was ahead of the global record.
HBB c.364G>C. The DNA is unchanged. The evidence around it is not.
A triage signal for the queue. Not a clinical risk score, and not a statement about any individual.
The same records as a list, for scanning and screen readers.