ClinVar Genomic variation as it relates to human health
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
Germline
Classification
(2)
Likely pathogenic
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 | |||
F8 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
913 | 1185 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Feb 2, 2023 | RCV003480393.1 | |
Likely pathogenic (1) |
|
Jan 18, 2024 | RCV003988123.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024