ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q22.31(chr9:95052447-95382122)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 | |||
CENPP | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
16 | 163 | |
ASPN | - | - |
GRCh38 GRCh38 GRCh37 |
- | 60 | |
ECM2 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 89 | |
IARS1 | - | - |
GRCh38 GRCh38 GRCh37 |
341 | 381 | |
IPPK | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 65 | |
NOL8 | - | - |
GRCh38 GRCh38 GRCh37 |
56 | 101 | |
OGN | - | - |
GRCh38 GRCh38 GRCh37 |
- | 55 | |
OMD | - | - |
GRCh38 GRCh38 GRCh37 |
- | 67 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 20, 2021 | RCV001827977.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023