ClinVar Genomic variation as it relates to human health
NM_001366385.1(CARD14):c.2448T>A (p.Tyr816Ter)
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 | |||
CARD14 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
721 | 1178 | |
LOC126862662 | - | - | - |
GRCh38 GRCh38 |
- | 117 |
SGSH | - | - |
GRCh38 GRCh38 GRCh37 |
996 | 1478 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 11, 2023 | RCV003804217.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024