ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:148538098-148855992)x3
Germline
Classification
(1)
Likely 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 | |||
IDS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
661 | 1576 | |
EOLA1 | - | - |
GRCh38 GRCh37 |
3 | 221 | |
HSFX1 | - | - | - |
GRCh38 GRCh37 |
- | 199 |
HSFX2 | - | - | - |
GRCh38 GRCh37 |
- | 221 |
MAGEA11 | - | - |
GRCh38 GRCh37 |
19 | 233 | |
MAGEA9B | - | - |
GRCh38 GRCh37 |
3 | 224 | |
TMEM185A | - | - |
GRCh38 GRCh37 |
8 | 233 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 30, 2020 | RCV001260055.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022