ClinVar Genomic variation as it relates to human health
NM_000224.3(KRT18):c.57C>T (p.Val19=)
Germline
Classification
(1)
Likely 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 | |||
KRT18 | - | - |
GRCh38 GRCh37 |
- | 51 | |
KRT8 | - | - |
GRCh38 GRCh37 |
58 | 82 | |
LOC106096416 | - | - | - | GRCh38 | - | 47 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 1, 2022 | RCV003391852.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024