ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq12(chrX:67541966-67752406)x2
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 | |||
OPHN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
396 | 535 | |
YIPF6 | - | - |
GRCh38 GRCh37 |
11 | 145 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 16, 2018 | RCV001007310.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022