ClinVar Genomic variation as it relates to human health
NM_001291867.2(NHS):c.566-154020_566-149209del
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 | |||
NHS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
523 | 709 | |
LOC101928389 | - | - | - | GRCh38 | - | 81 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 15, 2009 | RCV000011777.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023
NCBI staff provided HGVS expressions for allelic variant 300457.0008 from the sequence across the breakpoint reported in Figure 5G of the paper by Coccia et al., 2009 (PubMed 19414485).