ClinVar Genomic variation as it relates to human health
NM_001384900.1(SEMA3D):c.822C>T (p.Ser274=)
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 | |||
SEMA3D | - | - |
GRCh38 GRCh37 |
103 | 143 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Aug 1, 2022 | RCV003433930.8 | |
SEMA3D-related disorder
|
Likely benign (1) |
|
May 27, 2022 | RCV003939019.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024