ClinVar Genomic variation as it relates to human health
NM_033641.4(COL4A6):c.1384G>A (p.Glu462Lys)
Germline
Classification
(4)
Conflicting classifications of pathogenicity
Uncertain significance(2); Likely benign(2)
Uncertain significance(2); Likely benign(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 | |||
COL4A6 | - | - |
GRCh38 GRCh37 |
508 | 678 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
|
Aug 17, 2023 | RCV003434640.6 | |
Likely benign (1) |
|
Nov 26, 2019 | RCV003954010.1 | |
Uncertain significance (1) |
|
Apr 6, 2022 | RCV004189978.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024