ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq27.1-27.2(chrX:140079710-140783042)x2
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 | |||
LDOC1 | - | - |
GRCh38 GRCh37 |
3 | 200 | |
SPANXA1 | - | - |
GRCh38 GRCh37 |
- | 196 | |
SPANXA2 | - | - |
GRCh38 GRCh37 |
- | 196 | |
SPANXB1 | - | - |
GRCh38 GRCh37 |
- | 188 | |
SPANXC | - | - |
GRCh38 GRCh37 |
2 | 200 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV002287553.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2022