ClinVar Genomic variation as it relates to human health
NM_053013.4(ENO3):c.1296G>C (p.Lys432Asn)
Germline
Classification
(3)
Uncertain significance
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 | |||
ENO3 | - | - |
GRCh38 GRCh37 |
318 | 353 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 16, 2022 | RCV003073166.2 | |
Uncertain significance (1) |
|
Aug 1, 2023 | RCV003410077.4 | |
Uncertain significance (1) |
|
Mar 27, 2023 | RCV003404077.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024