ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.31(chr12:7815254-8013345)x1
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 | |||
APOBEC1 | - | - |
GRCh38 GRCh37 |
11 | 58 | |
CLEC4C | - | - |
GRCh38 GRCh37 |
14 | 65 | |
DPPA3 | - | - |
GRCh38 GRCh37 |
10 | 57 | |
GDF3 | - | - |
GRCh38 GRCh37 |
55 | 103 | |
NANOG | - | - |
GRCh38 GRCh37 |
7 | 59 | |
NANOGNB | - | - | - |
GRCh38 GRCh37 |
10 | 60 |
SLC2A14 | - | - |
GRCh38 GRCh37 |
19 | 78 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 19, 2017 | RCV000846280.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022