ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q31.1(chr9:106173402-107431515)x1
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
OR13C2 | - | - | - |
GRCh38 GRCh37 |
22 | 64 |
OR13C3 | - | - | - |
GRCh38 GRCh37 |
24 | 66 |
OR13C4 | - | - | - |
GRCh38 GRCh37 |
19 | 61 |
OR13C5 | - | - | - |
GRCh38 GRCh37 |
28 | 70 |
OR13C8 | - | - | - |
GRCh38 GRCh37 |
19 | 61 |
OR13C9 | - | - | - |
GRCh38 GRCh37 |
8 | 50 |
OR13F1 | - | - | - |
GRCh38 GRCh37 |
24 | 66 |
SMC2 | - | - |
GRCh38 GRCh37 |
78 | 121 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 16, 2022 | RCV002472789.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022