ClinVar Genomic variation as it relates to human health
NM_152558.5(IQCE):c.1148G>T (p.Arg383Leu)
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 | |||
IQCE | - | - |
GRCh38 GRCh37 |
120 | 186 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
IQCE-related disorder
|
Benign (1) |
|
May 24, 2019 | RCV003914381.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024