ClinVar Genomic variation as it relates to human health
NM_001100121.2(ECE2):c.1135C>T (p.Arg379Cys)
Germline
Classification
(1)
Uncertain significance
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 | |||
ECE2 | - | - |
GRCh38 GRCh37 |
- | 124 | |
EEF1AKMT4-ECE2 | - | - | - | GRCh38 | - | 102 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2024 | RCV004382281.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024