ClinVar Genomic variation as it relates to human health
m.12811T>C
Germline
Classification
(4)
Benign
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 | |||
MT-ND5 | - | - | GRCh38 | 307 | 324 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV000055698.3 | |
Uncertain significance (1) |
|
Mar 17, 2018 | RCV000507393.9 | |
Benign (1) |
|
Oct 17, 2019 | RCV000854857.1 | |
Benign (1) |
|
Apr 17, 2023 | RCV003319177.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs199974018 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Dec 09, 2023