ClinVar Genomic variation as it relates to human health
NM_000092.5(COL4A4):c.2164+15_2164+16insTTTG
Germline
Classification
(2)
Likely benign
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 | |||
COL4A4 | - | - |
GRCh38 GRCh37 |
2841 | 2874 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 21, 2021 | RCV002502083.1 | |
Likely benign (1) |
|
Nov 17, 2023 | RCV003775550.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2024