ClinVar Genomic variation as it relates to human health
NM_002693.3(POLG):c.3104+1G>T
Germline
Classification
(2)
Likely pathogenic
criteria provided, multiple submitters, no conflicts
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 |
1 | 2962 | |
POLGARF | - | - | GRCh38 | - | 2918 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 18, 2017 | RCV002326010.2 | |
Likely pathogenic (1) |
|
Oct 12, 2023 | RCV003514555.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024