ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q21.3(chr21:27856249-28514582)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 | |||
ADAMTS1 | - | - |
GRCh38 GRCh37 |
71 | 145 | |
ADAMTS5 | - | - |
GRCh38 GRCh37 |
63 | 133 | |
CYYR1 | - | - |
GRCh38 GRCh37 |
3 | 74 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Oct 29, 2019 | RCV001259403.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022