ClinVar Genomic variation as it relates to human health
NC_012920.1(MT-ND5):m.12923G>A
Germline
Classification
(3)
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 | |||
MT-ND5 | - | - | GRCh38 | 310 | 328 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 31, 2022 | RCV003150916.1 | |
Likely pathogenic (1) |
|
Oct 31, 2022 | RCV003150917.1 | |
Likely pathogenic (1) |
|
Oct 31, 2022 | RCV003150918.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024