ClinVar Genomic variation as it relates to human health
NM_015046.6(SETX):c.6848_6851delCAGA
Germline
Classification
(5)
Conflicting classifications of pathogenicity
Pathogenic(3); Likely pathogenic(1); Uncertain significance(1)
Pathogenic(3); Likely pathogenic(1); Uncertain significance(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 | |||
SETX | - | - |
GRCh38 GRCh37 |
1689 | 1762 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (2) |
|
Jul 10, 2020 | RCV000176318.17 | |
Pathogenic (1) |
|
May 12, 2023 | RCV000686045.17 | |
Uncertain significance (1) |
|
Sep 11, 2023 | RCV000988267.9 | |
Likely pathogenic (1) |
|
Feb 8, 2023 | RCV003233105.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024