ClinVar Genomic variation as it relates to human health
NM_000518.5(HBB):c.19del (p.Glu7fs)
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
HBB | - | - |
GRCh38 GRCh37 |
22 | 1823 | |
LOC106099062 | - | - | - | GRCh38 | - | 853 |
LOC107133510 | - | - | - | GRCh38 | - | 1773 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 27, 2024 | RCV003994949.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 20, 2024