ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.2(chr5:176052444-176281813)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 | |||
EIF4E1B | - | - | - |
GRCh38 GRCh37 |
16 | 71 |
SNCB | - | - |
GRCh38 GRCh37 |
18 | 73 | |
TSPAN17 | - | - |
GRCh38 GRCh37 |
8 | 63 | |
UNC5A | - | - |
GRCh38 GRCh37 |
32 | 89 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV000449145.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024