ClinVar Genomic variation as it relates to human health
NM_004100.5(EYA4):c.1276T>A (p.Leu426Ile)
Germline
Classification
(2)
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 | |||
EYA4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
588 | 978 | |
LOC126859796 | - | - | - | GRCh38 | - | 43 |
TARID | - | - | GRCh38 | - | 379 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 10, 2023 | RCV003181617.2 | |
Uncertain significance (1) |
|
Dec 16, 2022 | RCV003615933.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024