ClinVar Genomic variation as it relates to human health
NC_000005.10:g.(?_112737024)_(112844136_?)del
Germline
Classification
(2)
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 | |||
APC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
14091 | 14225 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 30, 2018 | RCV000813966.1 | |
Pathogenic (1) |
|
Aug 2, 2021 | RCV001869257.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022