ClinVar Genomic variation as it relates to human health
NM_001360016.2(G6PD):c.-32G>T
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
IKBKG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
128 | 428 | |
G6PD | - | - |
GRCh38 GRCh37 |
657 | 978 | |
LOC107181288 | - | - | - | GRCh38 | - | 127 |
LOC129929052 | - | - | - | GRCh38 | - | 122 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 1, 2023 | RCV004018057.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 07, 2024