ClinVar Genomic variation as it relates to human health
NM_000069.3(CACNA1S):c.3796-9G>A
Germline
Classification
(14)
Benign
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 | |||
CACNA1S | No evidence available | No evidence available |
GRCh38 GRCh37 |
2680 | 2708 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (5) |
|
Jul 21, 2017 | RCV000242770.18 | |
Benign (2) |
|
Apr 11, 2023 | RCV000309653.14 | |
Benign (1) |
|
Jan 31, 2024 | RCV000536307.17 | |
Benign (1) |
|
Oct 16, 2023 | RCV001812666.16 | |
Benign (3) |
|
Feb 5, 2024 | RCV003445777.4 | |
Benign (1) |
|
Apr 11, 2023 | RCV003445778.1 | |
Benign (1) |
|
Apr 11, 2023 | RCV003445779.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs142184434 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Oct 08, 2024