ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.3(chr21:46305956-46624646)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
ADARB1 | - | - |
GRCh38 GRCh37 |
52 | 166 | |
ITGB2 | - | - |
GRCh38 GRCh37 |
787 | 894 | |
LINC00163 | - | - |
GRCh38 GRCh37 |
- | 103 | |
SLX9 | - | - | - |
GRCh38 GRCh37 |
25 | 129 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV000446108.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024