ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.3(chr21:46569368-46842469)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 | |||
ADARB1 | - | - |
GRCh38 GRCh37 |
60 | 174 | |
COL18A1 | - | - |
GRCh38 GRCh38 GRCh37 |
1840 | 3024 | |
LINC00315 | - | - | - | GRCh37 | - | 110 |
LINC00334 | - | - | - |
GRCh38 GRCh37 |
- | 109 |
POFUT2 | - | - |
GRCh38 GRCh37 |
24 | 136 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 8, 2018 | RCV000684139.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022