ClinVar Genomic variation as it relates to human health
NM_002693.3(POLG):c.2265+1G>A
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Likely pathogenic(2); Uncertain significance(1)
Likely pathogenic(2); Uncertain significance(1)
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 | |||
POLG | - | - |
GRCh38 GRCh37 |
6 | 2981 | |
POLGARF | - | - | GRCh38 | - | 2929 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 8, 2021 | RCV002475511.2 | |
Likely pathogenic (1) |
|
Oct 13, 2023 | RCV002571546.2 | |
Likely pathogenic (1) |
|
Feb 20, 2023 | RCV003985873.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024