ClinVar Genomic variation as it relates to human health
NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys)
Germline
Classification
(2)
Uncertain significance
criteria provided, multiple submitters, no conflicts
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 | |||
COL6A2 | - | - |
GRCh38 GRCh37 |
2027 | 2165 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 6, 2022 | RCV003879915.1 | |
COL6A2-related disorder
|
Uncertain significance (1) |
|
Dec 11, 2023 | RCV004539186.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 08, 2024