ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del
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 | |||
EFNB1 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
147 | 279 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 15, 2013 | RCV000087028.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022
Deletion resulting in the loss of exons 3-5 from gene EFNB1, plus flanking intronic and genomic sequences.
NCBI staff reviewed the sequence information reported in PubMed 23335590 Fig. 2F to determine the location of this deletion on the genomic reference sequence. The deletion results in the loss of exons 3-5 of gene EFNB1, plus flanking intronic and genomic sequences.