ClinVar Genomic variation as it relates to human health
NC_012920.1(MT-TL1):m.3273del
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Uncertain Significance
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-TL1 | - | - | GRCh38 | 37 | 39 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 23, 2023 | RCV004595651.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024