ClinVar Genomic variation as it relates to human health
NM_033380.3(COL4A5):c.3393_3419del (p.Pro1132_Gly1140del)
Germline
Classification
(2)
Pathogenic/Likely pathogenic
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 | |||
COL4A5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2488 | 2667 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 4, 2022 | RCV002858694.2 | |
Likely pathogenic (1) |
|
Feb 23, 2023 | RCV003152803.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024