ClinVar Genomic variation as it relates to human health
NM_001130144.3(LTBP3):c.427C>A (p.Pro143Thr)
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 | |||
LTBP3 | - | - |
GRCh38 GRCh37 |
1062 | 1403 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 2, 2021 | RCV002330096.2 | |
Uncertain significance (1) |
|
Nov 10, 2023 | RCV003754945.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024