ClinVar Genomic variation as it relates to human health
NM_001384900.1(SEMA3D):c.113T>C (p.Leu38Ser)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(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 | |||
SEMA3D | - | - |
GRCh38 GRCh37 |
103 | 143 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
SEMA3D-related disorder
|
Uncertain significance (1) |
|
Jun 27, 2023 | RCV003420497.4 |
Likely benign (1) |
|
Jun 30, 2022 | RCV004202471.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 25, 2024