ClinVar Genomic variation as it relates to human health
NM_015713.5(RRM2B):c.37G>C (p.Asp13His)
Germline
Classification
(2)
Uncertain significance
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 | |||
LOC130000896 | - | - | - | GRCh38 | - | 42 |
RRM2B | - | - |
GRCh38 GRCh37 |
332 | 410 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 15, 2024 | RCV003577202.3 | |
RRM2B-related disorder
|
Uncertain significance (1) |
|
Oct 23, 2023 | RCV003980972.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024