ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p11.2(chr17:21298119-21501929)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 | |||
KCNJ12 | - | - |
GRCh38 GRCh37 |
60 | 82 | |
LINC02693 | - | - | - |
GRCh38 GRCh37 |
5 | 27 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 30, 2016 | RCV000487706.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 24, 2022