ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p26.3-26.2(chr3:2220949-2920945)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 | |||
CNTN4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
266 | 498 | |
LOC107522028 | - | - | - | GRCh38 | - | 62 |
LOC129936036 | - | - | - | GRCh38 | - | 55 |
LOC129936037 | - | - | - | GRCh38 | - | 53 |
LOC129936038 | - | - | - | GRCh38 | - | 53 |
LOC132088944 | - | - | - | GRCh38 | - | 60 |
LOC132088949 | - | - | - | GRCh38 | - | 59 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Dec 22, 2010 | RCV000135511.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024