ClinVar Genomic variation as it relates to human health
NM_001130144.3(LTBP3):c.127G>A (p.Gly43Arg)
Germline
Classification
(3)
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) |
|
Mar 4, 2022 | RCV002385314.2 | |
Uncertain significance (1) |
|
Mar 12, 2024 | RCV004793804.1 | |
Uncertain significance (1) |
|
Oct 15, 2023 | RCV003103596.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 30, 2024