ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q12.3(chr22:36296883-36631953)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 | |||
APOL2 | - | - |
GRCh38 GRCh37 |
33 | 58 | |
APOL3 | - | - |
GRCh38 GRCh37 |
37 | 61 | |
APOL4 | - | - |
GRCh38 GRCh37 |
8 | 31 | |
RBFOX2 | - | - |
GRCh38 GRCh38 GRCh37 |
70 | 92 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 1, 2021 | RCV001832996.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022