ClinVar Genomic variation as it relates to human health
NM_001146262.4(SYT14):c.8T>C (p.Ile3Thr)
Germline
Classification
(2)
Likely benign
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 | |||
SYT14 | - | - |
GRCh38 GRCh37 |
88 | 113 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
SYT14-related disorder
|
Likely benign (1) |
|
Feb 24, 2019 | RCV003966328.1 |
Likely benign (1) |
|
Jul 12, 2023 | RCV004335196.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 18, 2024