ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp11.3-11.23(chrX:46029115-46509514)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 | |||
ZNF674 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
47 | - | |
CHST7 | - | - |
GRCh38 GRCh37 |
20 | 182 | |
KRBOX4 | - | - |
GRCh38 GRCh37 |
- | 170 | |
SLC9A7 | - | - |
GRCh38 GRCh37 |
- | - |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 15, 2021 | RCV002474684.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022