ClinVar Genomic variation as it relates to human health
NM_002951.5(RPN2):c.12G>C (p.Pro4=)
Germline
Classification
(1)
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 | |||
MROH8 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 20 |
RPN2 | - | - |
GRCh38 GRCh38 GRCh37 |
179 | 199 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 31, 2022 | RCV003527956.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024