ClinVar Genomic variation as it relates to human health
NG_009929.2:g.523149_586240del
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 | |||
LARGE1 | - | - |
GRCh38 GRCh37 |
983 | 1013 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 1, 2007 | RCV000006596.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 24, 2022
NCBI staff provided HGVS expressions for allelic variant 603590.0003 from the sequence across the breakpoint reported in Figure 4c of the paper by van Reeuwijk et al., 2007 (PubMed 17436019).