ClinVar Genomic variation as it relates to human health
NM_019074.4(DLL4):c.205G>T (p.Val69Phe)
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 | |||
DLL4 | - | - |
GRCh38 GRCh37 |
233 | 244 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jul 26, 2022 | RCV002969807.1 | |
Uncertain significance (1) |
|
Aug 17, 2023 | RCV003108203.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024