ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q21.3(chr21:30120768-30533959)x1
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 | |||
CCT8 | - | - |
GRCh38 GRCh38 GRCh37 |
31 | 94 | |
LTN1 | - | - |
GRCh38 GRCh38 GRCh37 |
82 | 144 | |
MAP3K7CL | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 85 | |
N6AMT1 | - | - |
GRCh38 GRCh37 |
24 | 85 | |
RWDD2B | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 83 | |
USP16 | - | - |
GRCh38 GRCh38 GRCh37 |
50 | 112 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jul 7, 2014 | RCV000510889.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024