ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q13.3(chr4:71200989-71275284)x1
Germline
Classification
(1)
Likely benign
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 | |||
CABS1 | - | - |
GRCh38 GRCh37 |
24 | 56 | |
OPRPN | - | - |
GRCh38 GRCh37 |
1 | 31 | |
SMR3A | - | - |
GRCh38 GRCh37 |
15 | 47 | |
SMR3B | - | - |
GRCh38 GRCh37 |
11 | 43 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
- | RCV000448122.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024