ClinVar Genomic variation as it relates to human health
NC_000007.14:g.(?_94395012)_(94399104_?)del
Germline
Classification
(2)
Pathogenic
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 | |||
COL1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2060 | 2081 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 15, 2017 | RCV000547770.1 | |
Pathogenic (1) |
|
Jun 7, 2017 | RCV001865691.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024