ClinVar Genomic variation as it relates to human health
NM_000179.2(MSH6):c.-11863_457+1921del
Germline
Classification
(1)
Pathogenic
reviewed by expert panel
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 | |||
MSH6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
8865 | 9171 | |
LOC129933705 | - | - | - | GRCh38 | - | 10 |
LOC129933706 | - | - | - | GRCh38 | - | 36 |
LOC129933707 | - | - | - | GRCh38 | - | 116 |
LOC129933708 | - | - | - | GRCh38 | - | - |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 5, 2013 | RCV000074617.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023