ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q21.13(chr8:80883771-81650440)x3
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
MRPS28 | - | - |
GRCh38 GRCh37 |
- | 68 | |
TPD52 | - | - |
GRCh38 GRCh37 |
1 | 48 | |
ZBTB10 | - | - |
GRCh38 GRCh37 |
41 | 82 | |
ZNF704 | - | - | - |
GRCh38 GRCh37 |
13 | 51 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 22, 2015 | RCV000511010.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022