ClinVar Genomic variation as it relates to human health
NM_000718.4(CACNA1B):c.5700del (p.Gln1901fs)
Germline
Classification
(2)
Pathogenic/Likely pathogenic
criteria provided, multiple submitters, no conflicts
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 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 20, 2022 | RCV002717239.2 | |
Likely pathogenic (1) |
|
Feb 14, 2023 | RCV003448465.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024