ClinVar Genomic variation as it relates to human health
NC_012920.1:m.14248dupC
Germline
Classification
(1)
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 | |||
MT-ND6 | - | - | GRCh38 | 102 | 110 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 15, 2011 | RCV000210344.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs869312882 ...
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 25, 2023
NCBI staff reviewed the sequence information reported in PubMed 21555623 Fig. C to determine the location of this allele on the current reference sequence.