ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q21(chr11:93975926-94626160)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 | |||
AMOTL1 | - | - |
GRCh38 GRCh37 |
79 | 99 | |
ANKRD49 | - | - |
GRCh38 GRCh37 |
- | 35 | |
FUT4 | - | - |
GRCh38 GRCh37 |
13 | 76 | |
GPR83 | - | - |
GRCh38 GRCh37 |
33 | 60 | |
IZUMO1R | - | - |
GRCh38 GRCh37 |
18 | 39 | |
MRE11 | - | - |
GRCh38 GRCh37 |
2145 | 2181 | |
PIWIL4 | - | - |
GRCh38 GRCh37 |
2 | 85 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 26, 2018 | RCV000683345.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022