ClinVar Genomic variation as it relates to human health
NM_032323.3(TMEM79):c.1045C>G (p.Leu349Val)
Germline
Classification
(1)
Uncertain significance
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 | |||
LOC111828496 | - | - | - | GRCh38 | - | 13 |
SMG5 | - | - |
GRCh38 GRCh37 |
66 | 140 | |
TMEM79 | - | - |
GRCh38 GRCh37 |
- | 72 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 29, 2023 | RCV004301882.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024