ClinVar Genomic variation as it relates to human health
NM_006329.4(FBLN5):c.432C>G (p.Cys144Trp)
Germline
Classification
(2)
Uncertain significance
no assertion criteria provided
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 | |||
FBLN5 | - | - |
GRCh38 GRCh37 |
550 | 573 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV002470173.1 | |
Uncertain significance (1) |
|
Dec 22, 2020 | RCV003447332.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 30, 2024