ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q31.3(chr4:151678774-152065504)x3
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
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 | |||
LRBA | - | - |
GRCh38 GRCh37 |
- | - | |
RPS3A | - | - |
GRCh38 GRCh38 GRCh37 |
- | - | |
SH3D19 | - | - |
GRCh38 GRCh38 GRCh37 |
- | - | |
SNORD73A | - | - |
GRCh38 GRCh38 GRCh37 |
- | - |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 22, 2018 | RCV000659192.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 24, 2022