ClinVar Genomic variation as it relates to human health
NM_001128425.2(MUTYH):c.27_28del (p.Ser9fs)
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 | |||
MUTYH | - | - |
GRCh38 GRCh37 |
2740 | 2897 | |
TOE1 | - | - |
GRCh38 GRCh37 |
170 | 326 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 14, 2021 | RCV002917663.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 08, 2025