ClinVar Genomic variation as it relates to human health
NC_000017.11:g.(?_7669599)_(7688293_?)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 | |||
TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3323 | 3421 | |
LOC126862483 | - | - | - | GRCh38 | - | 34 |
LOC130060171 | - | - | - | GRCh38 | - | 15 |
LOC130060172 | - | - | - | GRCh38 | - | 16 |
WRAP53 | - | - |
GRCh38 GRCh37 |
457 | 556 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 6, 2021 | RCV000816616.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024