ClinVar Genomic variation as it relates to human health
NM_001282772.2(POLR1B):c.36G>A (p.Arg12=)
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
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 | |||
LOC129934585 | - | - | - | GRCh38 | - | 2 |
POLR1B | - | - |
GRCh38 GRCh37 |
100 | 116 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
POLR1B-related disorder
|
Likely benign (1) |
|
Apr 26, 2023 | RCV003897043.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024