ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:153928244-154065414)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
F8 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
902 | 1173 | |
DKC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
460 | 672 | |
GAB3 | - | - |
GRCh38 GRCh37 |
20 | 226 | |
MPP1 | - | - |
GRCh38 GRCh37 |
19 | 227 | |
SMIM9 | - | - | - |
GRCh38 GRCh37 |
3 | 212 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240020.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022