ClinVar Genomic variation as it relates to human health
NM_016604.4(KDM3B):c.69_74del (p.23SA[2])
Germline
Classification
(2)
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 |
197 | 228 | |
LOC129994737 | - | - | - | GRCh38 | - | 19 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 8, 2021 | RCV002973395.1 | |
Likely benign (1) |
|
Jul 1, 2023 | RCV003326656.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024