ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q13.3(chr4:71271311-71502766)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 | |||
AMBN | - | - |
GRCh38 GRCh37 |
52 | 81 | |
AMTN | - | - |
GRCh38 GRCh37 |
17 | 45 | |
ENAM | - | - |
GRCh38 GRCh37 |
191 | 218 | |
MUC7 | - | - |
GRCh38 GRCh37 |
25 | 53 | |
OPRPN | - | - |
GRCh38 GRCh37 |
1 | 31 | |
SMR3B | - | - |
GRCh38 GRCh37 |
9 | 41 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 4, 2024 | RCV003482183.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 26, 2024