ClinVar Genomic variation as it relates to human health
NM_005138.3(SCO2):c.153G>A (p.Gln51=)
Germline
Classification
(1)
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 | |||
NCAPH2 | - | - |
GRCh38 GRCh37 |
53 | 571 | |
SCO2 | - | - |
GRCh38 GRCh37 |
4 | 881 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 29, 2023 | RCV003854186.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024