ClinVar Genomic variation as it relates to human health
NM_006030.4(CACNA2D2):c.3291+10G>A
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 | |||
CACNA2D2 | - | - |
GRCh38 GRCh37 |
699 | 1140 | |
CYB561D2 | - | - |
GRCh38 GRCh37 |
- | 437 | |
LOC127898564 | - | - | - | GRCh38 | - | 455 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 10, 2022 | RCV002610302.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024