ClinVar Genomic variation as it relates to human health
NM_016604.4(KDM3B):c.1720G>A (p.Val574Ile)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
criteria provided, conflicting classifications
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 |
---|---|---|---|---|
Likely benign (1) |
|
Feb 1, 2023 | RCV003428615.10 | |
Uncertain significance (1) |
|
Apr 23, 2024 | RCV004634260.1 | |
KDM3B-related disorder
|
Uncertain significance (1) |
|
Feb 13, 2024 | RCV003901069.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 20, 2024