ClinVar Genomic variation as it relates to human health
NM_001127208.3(TET2):c.685dup (p.Thr229fs)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); Uncertain significance(1)
criteria provided, conflicting classifications
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 | |||
TET2 | - | - |
GRCh38 GRCh37 |
6 | 634 | |
TET2-AS1 | - | - | - | GRCh38 | - | 614 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2022 | RCV002512257.14 | |
Uncertain significance (1) |
|
Jan 24, 2022 | RCV003138287.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 20, 2024