ClinVar Genomic variation as it relates to human health
NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)
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 | |||
COL12A1 | - | - |
GRCh38 GRCh37 |
3053 | 3156 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 29, 2022 | RCV002711729.3 | |
Uncertain significance (1) |
|
Sep 13, 2019 | RCV003146614.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024