ClinVar Genomic variation as it relates to human health
NM_053274.3(GLMN):c.980_984del
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
GLMN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
118 | 162 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 1, 2002 | RCV000008248.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 30, 2022