ClinVar Genomic variation as it relates to human health
NM_001142800.2(EYS):c.3143C>G (p.Ser1048Ter)
Germline
Classification
(2)
Pathogenic/Likely pathogenic
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 | |||
EYS | - | - |
GRCh38 GRCh37 |
4129 | 4683 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Feb 16, 2022 | RCV003460092.1 | |
Pathogenic (1) |
|
Sep 9, 2023 | RCV003565673.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024