ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q23.1(chr12:96422898-98921728)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 | |||
CDK17 | - | - |
GRCh38 GRCh37 |
22 | 29 | |
CFAP54 | - | - | - |
GRCh38 GRCh37 |
2 | 10 |
ELK3 | - | - |
GRCh38 GRCh37 |
26 | 33 | |
LTA4H | - | - |
GRCh38 GRCh37 |
29 | 36 | |
NEDD1 | - | - |
GRCh38 GRCh37 |
37 | 44 | |
RMST | - | - |
GRCh38 GRCh37 |
1 | 10 | |
TMPO | - | - |
GRCh38 GRCh37 |
566 | 683 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 20, 2015 | RCV000207135.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024