ClinVar Genomic variation as it relates to human health
NM_012114.3(CASP14):c.707G>A (p.Arg236Gln)
Germline
Classification
(1)
Uncertain significance
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 | |||
CASP14 | - | - |
GRCh38 GRCh37 |
56 | 72 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 30, 2022 | RCV004153749.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024