ClinVar Genomic variation as it relates to human health
NM_001080421.3(UNC13A):c.3881A>G (p.Asn1294Ser)
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 | |||
UNC13A | - | - |
GRCh38 GRCh37 |
253 | 269 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
UNC13A-related disorder
|
Uncertain significance (1) |
|
Jul 12, 2023 | RCV003392881.4 |
Uncertain significance (1) |
|
Nov 22, 2023 | RCV004765832.1 | |
Uncertain significance (1) |
|
Mar 31, 2024 | RCV004686776.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 27, 2024