ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq13.1(chrX:69987949-70082820)x4
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 | |||
EDA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
591 | 732 | |
AWAT2 | - | - |
GRCh38 GRCh37 |
10 | 145 | |
MIR676 | - | - | - | GRCh38 | - | 66 |
OTUD6A | - | - |
GRCh38 GRCh37 |
10 | 144 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Sep 26, 2012 | RCV000140232.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024