ClinVar Genomic variation as it relates to human health
NM_201384.3(PLEC):c.13283T>C (p.Val4428Ala)
Germline
Classification
(3)
Uncertain significance
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 | |||
PLEC | - | - |
GRCh38 GRCh37 |
5549 | 5693 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 1, 2022 | RCV002512367.10 | |
Uncertain significance (1) |
|
Oct 26, 2022 | RCV002571621.3 | |
Uncertain significance (1) |
|
Aug 31, 2023 | RCV002574755.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024