ClinVar Genomic variation as it relates to human health
NC_000002.12:g.(?_47369500)_(47445663_?)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 | |||
MSH2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7314 | 7467 | |
EPCAM | - | - |
GRCh38 GRCh37 |
722 | 817 | |
LOC129933695 | - | - | - | GRCh38 | - | 61 |
MIR559 | - | - | - | GRCh38 | - | 39 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 21, 2017 | RCV000553032.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023