ClinVar Genomic variation as it relates to human health
NM_005422.4(TECTA):c.1756C>T (p.Arg586Ter)
Germline
Classification
(3)
Pathogenic/Likely pathogenic
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 | |||
TBCEL-TECTA | - | - | - | GRCh38 | - | 1061 |
TECTA | - | - |
GRCh38 GRCh37 |
- | 1068 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Aug 2, 2023 | RCV002281492.3 | |
Pathogenic (2) |
|
Feb 28, 2023 | RCV002463191.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023