ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp11.4(chrX:38629364-38688697)x2
Germline
Classification
(1)
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 | |||
TSPAN7 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
69 | 228 | |
LOC130068099 | - | - | - | GRCh38 | - | 84 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign (1) |
|
Feb 4, 2013 | RCV000137228.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024