ClinVar Genomic variation as it relates to human health
NM_002253.4(KDR):c.3988A>T (p.Ile1330Leu)
Germline
Classification
(1)
Benign
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 | |||
KDR | - | - |
GRCh38 GRCh37 |
124 | 147 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
KDR-related disorder
|
Benign (1) |
|
Sep 10, 2019 | RCV003924093.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024