ClinVar Genomic variation as it relates to human health
NM_015221.4(DNMBP):c.4725G>A (p.Glu1575=)
Germline
Classification
(1)
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 | |||
DNMBP | - | - |
GRCh38 GRCh37 |
97 | 179 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
DNMBP-related disorder
|
Benign (1) |
|
Feb 21, 2019 | RCV003919754.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024