ClinVar Genomic variation as it relates to human health
NM_001127208.3(TET2):c.1712G>A (p.Arg571His)
Germline
Classification
(2)
Uncertain significance
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 | |||
TET2 | - | - |
GRCh38 GRCh37 |
2 | 619 | |
TET2-AS1 | - | - | - | GRCh38 | - | 603 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 9, 2023 | RCV003333549.1 | |
Uncertain significance (1) |
|
May 1, 2022 | RCV003436018.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024