ClinVar Genomic variation as it relates to human health
NM_001846.4(COL4A2):c.3884G>A (p.Arg1295Gln)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(2); Likely benign(1)
Uncertain significance(2); Likely benign(1)
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 | |||
COL4A2 | - | - |
GRCh38 GRCh37 |
1095 | 1579 | |
COL4A2-AS1 | - | - | - | GRCh38 | - | 253 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 2, 2021 | RCV003004320.2 | |
Uncertain significance (1) |
|
Dec 28, 2021 | RCV003140209.3 | |
Uncertain significance (1) |
|
May 9, 2023 | RCV003778533.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024