ClinVar Genomic variation as it relates to human health
NM_001999.4(FBN2):c.8034C>T (p.Cys2678=)
Germline
Classification
(2)
Benign/Likely benign
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 | |||
FBN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3009 | 3123 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jul 14, 2023 | RCV003104299.4 | |
Likely benign (1) |
|
Feb 16, 2021 | RCV003900927.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024