ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.1(chr7:5041361-5126344)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 | |||
LOC129389731 | - | - | - | GRCh38 | - | 19 |
LOC129997867 | - | - | - | GRCh38 | - | 16 |
LOC129997868 | - | - | - | GRCh38 | - | 16 |
RBAK | - | - |
GRCh38 GRCh37 |
- | 89 | |
RBAK-RBAKDN | - | - | - |
GRCh38 GRCh37 |
- | 92 |
RBAKDN | - | - | - | GRCh38 | - | 21 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Nov 30, 2010 | RCV000135240.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023