ClinVar Genomic variation as it relates to human health
NM_080632.3(UPF3B):c.1265A>G (p.Lys422Arg)
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 | |||
UPF3B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
250 | 418 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 5, 2019 | RCV002447949.2 | |
Uncertain significance (1) |
|
Dec 10, 2023 | RCV003624481.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024