ClinVar Genomic variation as it relates to human health
NM_000421.5(KRT10):c.789C>T (p.Thr263=)
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 | |||
KRT10 | - | - |
GRCh38 GRCh37 |
95 | 202 | |
KRT10-AS1 | - | - | - |
GRCh38 GRCh37 |
16 | 123 |
LOC126862559 | - | - | - | GRCh38 | - | 22 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign/Likely benign (2) |
|
Nov 1, 2022 | RCV002994706.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024