ClinVar Genomic variation as it relates to human health
NM_000069.3(CACNA1S):c.3607G>A (p.Asp1203Asn)
Germline
Classification
(6)
Uncertain significance
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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 6, 2022 | RCV002952713.2 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003455611.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003455612.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003455613.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003458885.1 | |
Uncertain significance (1) |
|
Aug 28, 2023 | RCV003340565.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024