ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.23(chr12:119364009-119606602)x3
Germline
Classification
(1)
Likely benign
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 | |||
CCDC60 | - | - | - |
GRCh38 GRCh37 |
2 | 53 |
LOC105370027 | - | - | - | GRCh38 | - | 53 |
LOC112163528 | - | - | - | GRCh38 | - | 6 |
LOC126861654 | - | - | - | GRCh38 | - | 6 |
LOC129390572 | - | - | - | GRCh38 | - | 6 |
LOC129390573 | - | - | - | GRCh38 | - | 6 |
LOC130008906 | - | - | - | GRCh38 | - | 6 |
TMEM233 | - | - |
GRCh38 GRCh37 |
- | 20 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 21, 2012 | RCV000139277.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024