ClinVar Genomic variation as it relates to human health
NM_032590.5(KDM2B):c.2190+10G>A
Germline
Classification
(1)
Likely benign
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 | |||
KDM2B | - | - |
GRCh38 GRCh37 |
122 | 170 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
KDM2B-related disorder
|
Likely benign (1) |
|
Jun 27, 2019 | RCV004554949.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 02, 2024