ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q13.33(chr3:121449737-121631940)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 | |||
EAF2 | - | - |
GRCh38 GRCh37 |
11 | 31 | |
GOLGB1 | - | - |
GRCh38 GRCh37 |
166 | 187 | |
IQCB1 | - | - |
GRCh38 GRCh37 |
513 | 534 | |
SLC15A2 | - | - |
GRCh38 GRCh37 |
30 | 53 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV000448696.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024