ClinVar Genomic variation as it relates to human health
NM_016604.4(KDM3B):c.13G>A (p.Ala5Thr)
Germline
Classification
(1)
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 | |||
KDM3B | - | - |
GRCh38 GRCh37 |
213 | 245 | |
LOC129994737 | - | - | - | GRCh38 | - | 20 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
KDM3B-related disorder
|
Benign (1) |
|
Nov 1, 2019 | RCV003981201.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024