ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p26.3-26.2(chr3:2749924-3037155)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 | |
LOC129389017 | - | - | - | GRCh38 | - | 46 |
LOC129936039 | - | - | - | GRCh38 | - | 47 |
LOC129936040 | - | - | - | GRCh38 | - | 46 |
LOC129936041 | - | - | - | GRCh38 | - | 46 |
LOC129936042 | - | - | - | GRCh38 | - | 46 |
LOC132088954 | - | - | - | GRCh38 | - | 47 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Oct 7, 2011 | RCV000137792.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024