ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q11.1-11.2(chr18:18540833-19156332)x3
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 | |||
ESCO1 | - | - |
GRCh38 GRCh37 |
44 | 81 | |
GREB1L | - | - |
GRCh38 GRCh37 |
223 | 363 | |
ROCK1 | - | - |
GRCh38 GRCh37 |
33 | 76 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jun 23, 2014 | RCV000510809.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024