ClinVar Genomic variation as it relates to human health
NC_000005.10:g.(?_35860832)_(35871233_?)del
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 | |||
IL7R | - | - |
GRCh38 GRCh37 |
550 | 575 | |
LOC129993794 | - | - | - | GRCh38 | - | 9 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 1, 2023 | RCV000805916.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024