ClinVar Genomic variation as it relates to human health
NM_016604.4(KDM3B):c.2340G>A (p.Pro780=)
Germline
Classification
(2)
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 |
243 | 278 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
May 1, 2022 | RCV003429774.10 | |
KDM3B-related disorder
|
Likely benign (1) |
|
Dec 27, 2021 | RCV003966412.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 20, 2024