ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q23.3(chr2:152061163-152300138)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 | |||
NMI | - | - |
GRCh38 GRCh37 |
19 | 42 | |
RBM43 | - | - | - |
GRCh38 GRCh37 |
21 | 43 |
RIF1 | - | - |
GRCh38 GRCh37 |
155 | 2458 | |
TNFAIP6 | - | - |
GRCh38 GRCh37 |
2 | 40 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV000448597.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024