ClinVar Genomic variation as it relates to human health
NM_002393.5(MDM4):c.734T>C (p.Val245Ala)
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 | |||
MDM4 | - | - |
GRCh38 GRCh37 |
28 | 44 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
MDM4-related disorder
|
Likely benign (1) |
|
Feb 26, 2022 | RCV003904348.1 |
Uncertain significance (1) |
|
Jan 2, 2024 | RCV004369767.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024