ClinVar Genomic variation as it relates to human health
NM_001142800.2(EYS):c.8629_8633del (p.Thr2877fs)
Germline
Classification
(1)
Pathogenic
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 | |||
PHF3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
127 | 674 | |
EYS | - | - |
GRCh38 GRCh37 |
4129 | 4683 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2023 | RCV003721129.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024