ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p11.2(chr17:21530124-22176920)x3
Germline
Classification
(1)
Benign
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 | |||
KCNJ18 | - | - | GRCh38 | 11 | 15 | |
LINC02693 | - | - | - |
GRCh38 GRCh37 |
5 | 27 |
LOC129390844 | - | - | - | GRCh38 | - | 3 |
LOC130060503 | - | - | - | GRCh38 | - | 7 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign (1) |
|
Oct 1, 2010 | RCV000141572.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024