ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q13.31(chr3:113594376-114060961)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 | |||
CCDC191 | - | - | - |
GRCh38 GRCh37 |
29 | 79 |
DRD3 | - | - |
GRCh38 GRCh37 |
50 | 84 | |
GRAMD1C | - | - | - |
GRCh38 GRCh37 |
30 | 66 |
QTRT2 | - | - | - |
GRCh38 GRCh37 |
4 | 37 |
TIGIT | - | - |
GRCh38 GRCh37 |
18 | 55 | |
ZBTB20 | - | - |
GRCh38 GRCh37 |
259 | 343 | |
ZDHHC23 | - | - |
GRCh38 GRCh37 |
22 | 68 | |
ZNF80 | - | - |
GRCh38 GRCh37 |
17 | 50 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 25, 2018 | RCV000848094.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022