ClinVar Genomic variation as it relates to human health
NM_080764.4(ZNF280B):c.937G>A (p.Val313Met)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
criteria provided, conflicting classifications
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 | |||
IGL | - | - | - | GRCh38 | - | 227 |
ZNF280B | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 111 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003389433.1 | |
Likely benign (1) |
|
Jul 1, 2022 | RCV003436038.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024