ClinVar Genomic variation as it relates to human health
NM_007055.4(POLR3A):c.346A>G (p.Met116Val)
Germline
Classification
(2)
Uncertain significance
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 | |||
LOC126860971 | - | - | - | GRCh38 | - | 73 |
POLR3A | - | - |
GRCh38 GRCh37 |
1027 | 1167 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 12, 2022 | RCV003062279.2 | |
Uncertain significance (1) |
|
Dec 7, 2020 | RCV004698359.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 25, 2024