ClinVar Genomic variation as it relates to human health
NM_019059.5(TOMM7):c.73T>C (p.Trp25Arg)
Germline
Classification
(2)
Pathogenic/Likely pathogenic
no assertion criteria provided
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 | |||
TOMM7 | - | - |
GRCh38 GRCh37 |
6 | 40 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Apr 28, 2022 | RCV002294517.1 | |
Pathogenic (1) |
|
Nov 13, 2023 | RCV003403732.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024