ClinVar Genomic variation as it relates to human health
NM_000718.4(CACNA1B):c.3295G>A (p.Val1099Met)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Benign(1)
Uncertain significance(1); 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 | |||
CACNA1B | - | - |
GRCh38 GRCh37 |
1359 | 1590 | |
LOC101928786 | - | - | - | GRCh38 | - | 74 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Dec 18, 2023 | RCV002914979.2 | |
Uncertain significance (1) |
|
Jul 25, 2023 | RCV003146685.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024