ClinVar Genomic variation as it relates to human health
NC_000021.8:g.(?_47401755)_(47546465_?)dup
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 | |||
COL6A1 | - | - |
GRCh38 GRCh37 |
1772 | 1882 | |
COL6A2 | - | - |
GRCh38 GRCh37 |
2011 | 2145 | |
COL6A2-DT | - | - | - | GRCh38 | - | 51 |
LOC121853033 | - | - | - | GRCh38 | - | 54 |
LOC130066866 | - | - | - | GRCh38 | - | 51 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 19, 2019 | RCV000804600.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024