ClinVar Genomic variation as it relates to human health
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
Germline
Classification
(4)
Conflicting classifications of pathogenicity
Likely pathogenic(2); Uncertain significance(2)
Likely pathogenic(2); Uncertain significance(2)
criteria provided, conflicting classifications
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
G6PD | - | - |
GRCh38 GRCh37 |
656 | 974 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
|
Aug 12, 2022 | RCV002305856.6 | |
Likely pathogenic (1) |
|
Dec 22, 2022 | RCV003464445.1 | |
Uncertain significance (1) |
|
Dec 11, 2023 | RCV004700722.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024