ClinVar Genomic variation as it relates to human health
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(2)
Likely pathogenic(1); 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 |
655 | 972 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
|
Oct 22, 2023 | RCV002305724.4 | |
Uncertain significance (1) |
|
Nov 17, 2023 | RCV004700721.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024