ClinVar Genomic variation as it relates to human health
NC_000007.13:g.(?_81331897)_(84751207_?)dup
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
SEMA3A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
223 | 255 | |
CACNA2D1 | - | - |
GRCh38 GRCh37 |
825 | 906 | |
HGF | - | - |
GRCh38 GRCh37 |
235 | 258 | |
PCLO | - | - |
GRCh38 GRCh37 |
2724 | 2793 | |
SEMA3D | - | - |
GRCh38 GRCh37 |
100 | 139 | |
SEMA3E | - | - |
GRCh38 GRCh37 |
690 | 715 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 21, 2022 | RCV003116599.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024