ClinVar Genomic variation as it relates to human health
NM_001393500.2(TOMT):c.467del (p.Ile156fs)
Germline
Classification
(1)
Likely 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 | |||
ANAPC15 | - | - |
GRCh38 GRCh37 |
- | 112 | |
LRTOMT | - | - |
GRCh38 GRCh37 |
23 | 232 | |
TOMT | - | - | - | GRCh38 | - | 118 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Sep 1, 2022 | RCV002283829.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 23, 2024