Record detail
One row in GLEAM-DB is one paper (PubMed) × one query variant. This page shows structured labels and provenance for that record, not a final variant classification.
Record identity
- Record ID
ead65d226b03727c10839d18- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
35379322PubMed- Title
- Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
- Journal
- Genome medicine
- Year
- 2022
- DOI
- 10.1186/s13073-022-01019-9
- PMC
PMC8981716PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- DARS2
- Query variant
NM_018122.5:c.228-12C>A- Normalized c.HGVS
- c.228-12C>A
- Normalized p.HGVS
- Not available
- Representative genomic HGVS
- CM000663.1:g.173797459C>A
- Genomic HGVS aliases
- CM000663.1:g.173797459C>A; CM000663.2:g.173828321C>A; NC_000001.10:g.173797459C>A; NC_000001.11:g.173828321C>A; NC_000001.9:g.172064082C>A; NG_016138.1:g.8663C>A
CoGenEx-PM3 evidence
Evidence status is assigned at the PMID × variant level and should not be interpreted as a final variant-level pathogenicity classification.
- Evidence status
- No PM3 Evidence Identified
- Query-evidence confidence
-
Low confidence
Deterministic And Llm Different Variant
- PM3 conclusion
- No PM3-relevant allelic-configuration evidence was identified for this PMID × variant record.
- Patient-level evidence
- No retained patient-level evidence was identified for this record.
Candidate context and target validation
Candidate context windows are places selected for audit because the query or its aliases may be relevant. They are not the same as a validated match to the target c.HGVS or p.HGVS expression.
- Candidate context
- Candidate context retained: 28 text windows and 4 table windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 28
- Table candidate windows
- 4
- Target c.HGVS validated
- Yes
- Target p.HGVS validated
- No
- Target validation
- Target variant matched with phase-unconfirmed biallelic evidence
Source provenance
- Reviewed source
- Supplementary material
- Supplement used by audit
- Yes
- Supplement available
- Yes
- Reviewed document format
- BioC full text
- Evidence context scope
- Supplement-focused audit context
- Evidence location
- Supp
Source links and copyright boundary
Use the PMID, PMC and DOI links above to inspect the source publication where access is permitted. GLEAM-DB redistributes structured metadata, evidence labels and provenance fields only; it does not redistribute copyrighted full text, supplementary tables, copied source tables, long evidence contexts, raw source documents, raw LLM outputs or internal processing logs.