ClinVar Genomic variation as it relates to human health
NM_033630.2(SCAND1):c.20G>A (p.Arg7Lys)
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 | |||
CNBD2 | - | - | - |
GRCh38 GRCh37 |
53 | 67 |
LOC130065773 | - | - | - | GRCh38 | - | 5 |
SCAND1 | - | - |
GRCh38 GRCh37 |
14 | 34 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 19, 2022 | RCV004183432.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 30, 2024