ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.13(chr12:112998335-113510817)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 | |||
RPH3A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
44 | 52 | |
DTX1 | - | - |
GRCh38 GRCh37 |
34 | 42 | |
OAS1 | - | - |
GRCh38 GRCh37 |
252 | 291 | |
OAS2 | - | - |
GRCh38 GRCh37 |
37 | 56 | |
OAS3 | - | - |
GRCh38 GRCh37 |
73 | 84 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV002287565.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2022