ClinVar Genomic variation as it relates to human health
NM_001387850.1(FILIP1L):c.3245G>A (p.Ser1082Asn)
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 | |||
CMSS1 | - | - | - |
GRCh38 GRCh37 |
13 | 133 |
FILIP1L | - | - |
GRCh38 GRCh37 |
- | 118 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
FILIP1L-related disorder
|
Benign (1) |
|
Jan 2, 2020 | RCV003949371.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024