ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.31-13.2(chr12:10049346-10322120)x3
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 | |||
CLEC12A | - | - |
GRCh38 GRCh37 |
16 | 78 | |
CLEC12B | - | - |
GRCh38 GRCh37 |
4 | 45 | |
CLEC1A | - | - |
GRCh38 GRCh37 |
19 | 55 | |
CLEC1B | - | - |
GRCh38 GRCh37 |
- | 59 | |
CLEC2A | - | - |
GRCh38 GRCh37 |
9 | 65 | |
CLEC7A | - | - |
GRCh38 GRCh37 |
24 | 60 | |
CLEC9A | - | - |
GRCh38 GRCh37 |
16 | 52 | |
OLR1 | - | - |
GRCh38 GRCh37 |
18 | 54 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 15, 2022 | RCV002473879.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022