ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21(chr22:18505502-19024659)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 | |||
DGCR2 | - | - |
GRCh38 GRCh37 |
61 | 463 | |
DGCR6 | - | - |
GRCh38 GRCh37 |
28 | 355 | |
MICAL3 | - | - |
GRCh38 GRCh37 |
175 | 252 | |
PEX26 | - | - |
GRCh38 GRCh37 |
545 | 639 | |
PRODH | - | - |
GRCh38 GRCh37 |
380 | 798 | |
TUBA8 | - | - |
GRCh38 GRCh37 |
289 | 379 | |
USP18 | - | - |
GRCh38 GRCh37 |
40 | 174 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 1, 2021 | RCV001829176.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022