ClinVar Genomic variation as it relates to human health
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
Germline
Classification
(7)
Benign/Likely benign
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 | |||
EVC | - | - |
GRCh38 GRCh37 |
1808 | 1959 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign/Likely benign (2) |
|
May 27, 2014 | RCV000180707.18 | |
Likely benign (2) |
|
Jan 13, 2018 | RCV000318248.14 | |
Likely benign (2) |
|
Mar 15, 2021 | RCV000842238.17 | |
Likely benign (1) |
|
Jan 29, 2024 | RCV001080726.16 |
Citations for germline classification of this variant
HelpText-mined citations for rs142535134 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 25, 2024