ClinVar Genomic variation as it relates to human health
NM_024496.4(IRF2BPL):c.462CGC[10] (p.Ala164_Val165insAla)
Germline
Classification
(2)
Benign
criteria provided, multiple submitters, no conflicts
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 | |||
IRF2BPL | - | - |
GRCh38 GRCh37 |
300 | 371 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jul 1, 2024 | RCV003393514.8 | |
IRF2BPL-related disorder
|
Benign (1) |
|
Jul 30, 2019 | RCV003906747.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 11, 2024