ClinVar Genomic variation as it relates to human health
NM_006642.5(SDCCAG8):c.963C>G (p.Ser321=)
Germline
Classification
(2)
Likely benign
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 | |||
SDCCAG8 | - | - |
GRCh38 GRCh38 GRCh37 |
613 | 797 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Oct 4, 2023 | RCV003815668.2 | |
SDCCAG8-related disorder
|
Likely benign (1) |
|
Aug 7, 2024 | RCV004723496.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024