ClinVar Genomic variation as it relates to human health
NM_005762.3(TRIM28):c.2148C>T (p.Pro716=)
Germline
Classification
(2)
Benign
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 | |||
TRIM28 | - | - |
GRCh38 GRCh37 |
81 | 106 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Feb 1, 2024 | RCV003666800.1 | |
TRIM28-related disorder
|
Benign (1) |
|
Dec 24, 2019 | RCV003981032.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024