ClinVar Genomic variation as it relates to human health
NM_005557.4(KRT16):c.699C>T (p.Ala233=)
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 | |||
KRT16 | - | - |
GRCh38 GRCh37 |
122 | 129 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Sep 19, 2023 | RCV003579666.1 | |
Likely benign (1) |
|
Jun 5, 2019 | RCV003939107.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024