ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq25-26.1(chrX:127435040-128717825)x0
Germline
Classification
(1)
Pathogenic
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 | |||
OCRL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
736 | 930 | |
SMARCA1 | - | - |
GRCh38 GRCh37 |
63 | 237 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 2, 2020 | RCV001827850.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 17, 2022