ClinVar Genomic variation as it relates to human health
NG_011735.4:g.308479_308480insAlu308464_308481dup
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
EYA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
522 | 560 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 1, 1997 | RCV000008395.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024
NCBI staff provided HGVS-like expressions for the insertion of the Alu element flanked by a direct repeat from the sequence in Figure 3 of the paper by Abdelhak et al., 1997 (PubMed 9361030). The different numbering of exons in the RefSeqGene record NG_011735.4 was verified by localizing the exon-specific primers in the same paper.