ClinVar Genomic variation as it relates to human health
NM_019616.4(F7):c.1057C>T (p.Arg353Trp)
Germline
Classification
(2)
Likely pathogenic
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 | |||
F7 | - | - |
GRCh38 GRCh37 |
255 | 394 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
F7-related disorder
|
Likely pathogenic (1) |
|
Aug 22, 2024 | RCV003417106.6 |
Likely pathogenic (1) |
|
Jan 20, 2023 | RCV003481501.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024