ClinVar Genomic variation as it relates to human health
NM_001844.5(COL2A1):c.3435+4_3435+7del
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(2)
Likely pathogenic(1); Uncertain significance(2)
criteria provided, conflicting classifications
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 | |||
COL2A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2808 | 2819 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 10, 2022 | RCV002288282.1 | |
Uncertain significance (1) |
|
Jun 7, 2022 | RCV003097763.2 | |
Likely pathogenic (1) |
|
May 13, 2022 | RCV003128453.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024