ClinVar Genomic variation as it relates to human health
NM_001384900.1(SEMA3D):c.2027T>C (p.Ile676Thr)
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 | |||
LOC126860094 | - | - | - | GRCh38 | - | 23 |
SEMA3D | - | - |
GRCh38 GRCh37 |
103 | 143 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
SEMA3D-related disorder
|
Uncertain significance (1) |
|
Nov 21, 2023 | RCV003393225.5 |
Likely benign (1) |
|
Oct 1, 2023 | RCV003429102.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024