ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q21.1(chr4:77278194-78393601)x3
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 | |||
CCDC158 | - | - | - |
GRCh38 GRCh37 |
85 | 111 |
CCNG2 | - | - |
GRCh38 GRCh37 |
17 | 40 | |
CCNI | - | - |
GRCh38 GRCh37 |
6 | 29 | |
SEPTIN11 | - | - |
GRCh38 GRCh37 |
20 | 45 | |
SHROOM3 | - | - |
GRCh38 GRCh37 |
20 | 250 | |
SOWAHB | - | - | - |
GRCh38 GRCh37 |
41 | 67 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 24, 2017 | RCV000848750.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022